B6Rcc.Cg-Cd44^tm2.1Ugu Kit^W/Cnrm

Status	Available to order
EMMA ID	EM:01988
International strain name	B6Rcc.Cg-Cd44^tm2.1Ugu Kit^W/Cnrm
Alternative name	C57 BL/6RCC c-kitW CD44v10-/-
Strain type	Spontaneous
Allele/Transgene symbol	Kit^W, Cd44^tm2.1Ugu
Gene/Transgene symbol	Kit, Cd44

Information from provider

Provider	Ursula Günthert
Provider affiliation	Institut für Pathologie, University of Basel
Genetic information	The mouse Cd44 variant region was isolated from a 129SV genomic library. Two 34 bp loxP sites were inserted in direct repeats into a single BstEII site 5' of exon v10 and at the 3' end of the neo resistance cassette, which was then inserted into the single BstXI site 3' of exon v10. The targeting vector was transfected in ES cells and homologous recombinant clones injected into C57BL/6 blastocysts. Chimaeric male offspring was then mated with C57BL/6 cre recombinaase deleter females to allow the removal of the loxP flanked region. Offspring was genotyped by PCR using exon v10 flanking oligos and analysing for the deletion of the loxP targeted region. The Kit^W (KIT proto-oncogene, dominant spotting) allele, is a spontaneous mutation in the Kit (Cd117) gene which involves a G to A nucleotide exchange, affecting the splice donor site of intron 10. This causes skipping of exon 10, the exon encoding the transmembrane domain, resulting in a protein that can not be expressed on the cell surface.
Phenotypic information	Cd44v10-/-: Homozygous mice are viable and fertile, display strongly reduced symptoms in autoimmune diseases and defects in haemopoiesis. Cd117-/-: Macrocytic anaemia, reduced red blood cells number with increased volume. Homozygous mice die at day 10 after birth.
Breeding history	10 generations backcrossed to C57BL/6Rcc. Currently bred as C57BL/6Rcc Cd117+/- ; Cd44v10-/-
References	Variant isoforms of CD44 are required in early thymocyte development.;Schwärzler C, Oliferenko S, Günthert U, ;2001;European journal of immunology;31;2997-3005; 11592076 Prevention of genetic anemias in mice by microinjection of normal hematopoietic stem cells into the fetal placenta.;Fleischman R A, Mintz B, ;1979;Proceedings of the National Academy of Sciences of the United States of America;76;5736-40; 42904

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Systemic mastocytosis with associated hematologic neoplasm / Orphanet_98849
Isolated bone marrow mastocytosis / Orphanet_158778
Acute myeloblastic leukemia with maturation / Orphanet_98834
Gastrointestinal stromal tumor / Orphanet_44890
Testicular seminomatous germ cell tumor / Orphanet_842
Smoldering systemic mastocytosis / Orphanet_158775
Piebaldism / Orphanet_2884
Typical urticaria pigmentosa / Orphanet_158766
Pseudoxanthomatous diffuse cutaneous mastocytosis / Orphanet_280794
Plaque-form urticaria pigmentosa / Orphanet_158769
Chronic mast cell leukemia / Orphanet_566396
Telangiectasia macularis eruptiva perstans / Orphanet_90389
Acute mast cell leukemia / Orphanet_566393
Cutaneous mastocytoma / Orphanet_79455
Bullous diffuse cutaneous mastocytosis / Orphanet_280785
Nodular urticaria pigmentosa / Orphanet_158772

MGI phenotypes (allele matching)

decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
decreased T cell proliferation / MGI
abnormal ventral coat pigmentation / MGI
decreased mast cell number / MGI
abnormal mast cell physiology / MGI
absent coat pigmentation / MGI
small ovary / MGI
small testis / MGI
abnormal spermatogenesis / MGI
infertility / MGI
abnormal ovarian follicle number / MGI
high mean erythrocyte cell number / MGI
increased hematocrit / MGI
irregular coat pigmentation / MGI
abnormal coat/hair pigmentation / MGI
variable body spotting / MGI
reproductive system phenotype / MGI
hematopoietic system phenotype / MGI
decreased body weight / MGI
prenatal lethality / MGI
macrocytic anemia / MGI
abnormal survival / MGI
perinatal lethality, incomplete penetrance / MGI
abnormal eye pigmentation / MGI
postnatal lethality, complete penetrance / MGI
altered response to myocardial infarction / MGI
kidney inflammation / MGI
decreased inflammatory response / MGI
decreased airway responsiveness / MGI
increased urine protein level / MGI
increased myocardial infarction size / MGI
decreased vascular permeability / MGI
abnormal response/metabolism to endogenous compounds / MGI
abnormal renal glomerulus morphology / MGI
immune system phenotype / MGI
impaired neutrophil recruitment / MGI
abnormal interferon level / MGI
abnormal interleukin level / MGI
increased sensitivity to induced morbidity/mortality / MGI
increased erythrocyte protoporphyrin level / MGI
glomerular crescent / MGI
abnormal Sertoli cell morphology / MGI
abnormal histamine physiology / MGI
decreased susceptibility to induced arthritis / MGI
abnormal body temperature / MGI
decreased susceptibility to type I hypersensitivity reaction / MGI
decreased basophil cell number / MGI
hepatic steatosis / MGI
preweaning lethality, incomplete penetrance / MGI
increased papilloma incidence / MGI
increased esophageal papilloma incidence / MGI
peptic ulcer / MGI
abnormal response to transplant / MGI
abnormal digestive system physiology / MGI
abnormal muscle physiology / MGI
abnormal interstitial cell of Cajal morphology / MGI
increased sensitivity to xenobiotic induced morbidity/mortality / MGI
prenatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

decreased mast cell number / MGI
altered response to myocardial infarction / MGI
abnormal cell morphology / MGI
decreased mast cell histamine storage / MGI
abnormal uterus morphology / MGI
thin epidermis / MGI
abnormal lipid level / MGI
abnormal vasculogenesis / MGI
abnormal digestive system physiology / MGI
impaired wound healing / MGI
impaired macrophage phagocytosis / MGI
liver inflammation / MGI
lung inflammation / MGI
abnormal definitive hematopoiesis / MGI
no abnormal phenotype detected / MGI
abnormal CD4-positive, alpha beta T cell morphology / MGI
abnormal neutrophil physiology / MGI
short tibia / MGI
impaired skin barrier function / MGI
delayed wound healing / MGI
decreased myocardial infarction size / MGI
abnormal leukocyte migration / MGI
peritoneal inflammation / MGI
decreased susceptibility to induced arthritis / MGI
decreased tumor growth/size / MGI
abnormal leukocyte adhesion / MGI
abnormal physiological neovascularization / MGI
increased susceptibility to induced arthritis / MGI
enhanced coordination / MGI
decreased cholesterol level / MGI
abnormal vascular endothelial cell physiology / MGI
decreased susceptibility to kidney reperfusion injury / MGI
abnormal miniature excitatory postsynaptic currents / MGI
decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
increased mean systemic arterial blood pressure / MGI
abnormal CD8-positive, alpha beta T cell morphology / MGI
abnormal response to infection / MGI
increased susceptibility to parasitic infection / MGI
impaired natural killer cell mediated cytotoxicity / MGI
decreased acute inflammation / MGI
increased acute inflammation / MGI
decreased T cell proliferation / MGI
digestive/alimentary phenotype / MGI
immune system phenotype / MGI
hematopoietic system phenotype / MGI
abnormal CD4-positive, alpha-beta T cell physiology / MGI
abnormal T-helper 1 physiology / MGI
abnormal T-helper 2 physiology / MGI
choroidal neovascularization / MGI
decreased circulating creatinine level / MGI
decreased blood urea nitrogen level / MGI
abnormal vascular smooth muscle physiology / MGI
decreased angiogenesis / MGI
decreased susceptibility to type IV hypersensitivity reaction / MGI
abnormal cell physiology / MGI
abnormal vascular endothelial cell morphology / MGI
abnormal involution of the mammary gland / MGI
increased diameter of tibia / MGI
abnormal osteoclast differentiation / MGI
increased circulating tumor necrosis factor level / MGI
decreased circulating tumor necrosis factor level / MGI
increased tumor necrosis factor secretion / MGI
abnormal interleukin secretion / MGI
increased circulating interferon-gamma level / MGI
increased circulating interleukin-2 level / MGI
increased interleukin-1 beta secretion / MGI
increased interleukin-10 secretion / MGI
increased interleukin-6 secretion / MGI
impaired neutrophil recruitment / MGI
abnormal chemokine secretion / MGI
decreased transforming growth factor level / MGI
decreased sensitivity to induced cell death / MGI
abnormal epidermal lamellar body morphology / MGI
increased sensitivity to induced morbidity/mortality / MGI
abnormal circulating chemokine level / MGI
abnormal circulating cytokine level / MGI
decreased activation-induced cell death of T cells / MGI
increased mitochondria size / MGI
abnormal mitochondrial crista morphology / MGI
decreased fibroblast proliferation / MGI
impaired leukocyte tethering or rolling / MGI
abnormal ear pigmentation / MGI
abnormal cochlea morphology / MGI
abnormal organ of Corti morphology / MGI
organ of Corti degeneration / MGI
abnormal stria vascularis morphology / MGI
decreased circulating LDL cholesterol level / MGI
decreased circulating HDL cholesterol level / MGI
decreased hematocrit / MGI
abnormal erythropoiesis / MGI
macrocytosis / MGI
increased mast cell number / MGI
decreased bone marrow cell number / MGI
decreased mast cell number / MGI
altered response to myocardial infarction / MGI
head blaze / MGI
diluted coat color / MGI
irregular coat pigmentation / MGI
belly spot / MGI
alopecia / MGI
abnormal digestive system morphology / MGI
abnormal esophagus morphology / MGI
abnormal cecum morphology / MGI
enlarged spleen / MGI
spleen hyperplasia / MGI
spleen hypoplasia / MGI
decreased thymocyte number / MGI
abnormal female reproductive system morphology / MGI
abnormal oocyte morphology / MGI
abnormal ovary morphology / MGI
small ovary / MGI
ovary hyperplasia / MGI
impaired ovarian folliculogenesis / MGI
abnormal ovarian folliculogenesis / MGI
abnormal ovarian follicle morphology / MGI
constricted vagina orifice / MGI
abnormal male reproductive system morphology / MGI
small testis / MGI
Leydig cell hyperplasia / MGI
arrest of spermatogenesis / MGI
abnormal spermatogenesis / MGI
pigmentation phenotype / MGI
hyperpigmentation / MGI
absent skin pigmentation / MGI
reddish skin / MGI
decreased body weight / MGI
distended abdomen / MGI
abnormal eye pigmentation / MGI
anemia / MGI
abnormal erythrocyte cell number / MGI
abnormal vascular permeability / MGI
abnormal digestive system physiology / MGI
postnatal growth retardation / MGI
increased circulating luteinizing hormone level / MGI
arrested B cell differentiation / MGI
kidney inflammation / MGI
decreased inflammatory response / MGI
reduced fertility / MGI
reduced male fertility / MGI
reduced female fertility / MGI
infertility / MGI
male infertility / MGI
female infertility / MGI
decreased litter size / MGI
testis hypoplasia / MGI
deafness / MGI
increased papilloma incidence / MGI
ovary cysts / MGI
abnormal coat/hair pigmentation / MGI
prenatal lethality / MGI
perinatal lethality / MGI
postnatal lethality / MGI
premature death / MGI
abnormal skin pigmentation / MGI
abnormal muscle physiology / MGI
abnormal definitive hematopoiesis / MGI
abnormal B cell differentiation / MGI
abnormal T cell differentiation / MGI
abnormal seminiferous tubule morphology / MGI
decreased airway responsiveness / MGI
abnormal proerythroblast morphology / MGI
abnormal mast cell physiology / MGI
abnormal erythrocyte morphology / MGI
increased mean corpuscular volume / MGI
decreased mean corpuscular volume / MGI
high mean erythrocyte cell number / MGI
low mean erythrocyte cell number / MGI
increased mean platelet volume / MGI
decreased basophil cell number / MGI
increased hematocrit / MGI
hepatic steatosis / MGI
belted / MGI
asthenozoospermia / MGI
abnormal spermatogonia proliferation / MGI
oligozoospermia / MGI
absent ovarian follicles / MGI
abnormal Sertoli cell morphology / MGI
microcytic anemia / MGI
macrocytic anemia / MGI
abnormal cochlear ganglion morphology / MGI
cochlear ganglion degeneration / MGI
polycythemia / MGI
decreased hemoglobin content / MGI
decreased erythrocyte cell number / MGI
abnormal melanocyte morphology / MGI
abnormal otolith morphology / MGI
white spotting / MGI
head spot / MGI
variable body spotting / MGI
increased urine protein level / MGI
abnormal primordial germ cell migration / MGI
no phenotypic analysis / MGI
increased myocardial infarction size / MGI
decreased vascular permeability / MGI
increased erythrocyte cell number / MGI
increased erythroid progenitor cell number / MGI
enlarged otoliths / MGI
abnormal tectorial membrane morphology / MGI
reversion by mitotic recombination / MGI
intestinal obstruction / MGI
increased esophageal papilloma incidence / MGI
peptic ulcer / MGI
decreased susceptibility to induced arthritis / MGI
decreased tumor growth/size / MGI
abnormal response/metabolism to endogenous compounds / MGI
abnormal male reproductive system physiology / MGI
pallor / MGI
increased tumor growth/size / MGI
belly blaze / MGI
decreased fetal size / MGI
vestibular hair cell degeneration / MGI
cochlear hair cell degeneration / MGI
thin stria vascularis / MGI
abnormal strial basal cell morphology / MGI
abnormal strial marginal cell morphology / MGI
abnormal stria vascularis vasculature morphology / MGI
abnormal cochlear outer hair cell morphology / MGI
absent endocochlear potential / MGI
absent oocytes / MGI
decreased testis weight / MGI
decreased male germ cell number / MGI
decreased epididymis weight / MGI
increased B cell number / MGI
decreased B cell number / MGI
increased susceptibility to parasitic infection / MGI
abnormal melanosome morphology / MGI
azoospermia / MGI
absent coat pigmentation / MGI
non-pigmented tail tip / MGI
decreased circulating cholesterol level / MGI
abnormal renal glomerulus morphology / MGI
homeostasis/metabolism phenotype / MGI
hearing/vestibular/ear phenotype / MGI
growth/size/body region phenotype / MGI
digestive/alimentary phenotype / MGI
immune system phenotype / MGI
reproductive system phenotype / MGI
hematopoietic system phenotype / MGI
abnormal action potential / MGI
thrombocytosis / MGI
abnormal body temperature / MGI
increased mean corpuscular hemoglobin / MGI
increased hemoglobin content / MGI
decreased susceptibility to type I hypersensitivity reaction / MGI
increased bleeding time / MGI
increased mean corpuscular hemoglobin concentration / MGI
abnormal response to transplant / MGI
absent strial intermediate cells / MGI
abnormal vestibular saccule morphology / MGI
abnormal female germ cell morphology / MGI
abnormal male germ cell morphology / MGI
decreased Cajal-Retzius cell number / MGI
abnormal ventral coat pigmentation / MGI
increased megakaryocyte cell number / MGI
abnormal primordial germ cell proliferation / MGI
abnormal primordial germ cell morphology / MGI
slow postnatal weight gain / MGI
impaired neutrophil recruitment / MGI
abnormal interferon level / MGI
abnormal interleukin level / MGI
increased mast cell degranulation / MGI
decreased mast cell degranulation / MGI
decreased survivor rate / MGI
abnormal erythroid progenitor cell morphology / MGI
abnormal ovarian follicle number / MGI
increased physiological sensitivity to xenobiotic / MGI
decreased physiological sensitivity to xenobiotic / MGI
delayed female fertility / MGI
meteorism / MGI
abnormal primordial ovarian follicle morphology / MGI
abnormal foot pigmentation / MGI
enlarged cecum / MGI
small cecum / MGI
distended cecum / MGI
distended ileum / MGI
distended stomach / MGI
increased gastrointestinal stromal tumor incidence / MGI
abnormal interstitial cell of Cajal morphology / MGI
interstitial cells of Cajal hyperplasia / MGI
impaired behavioral response to xenobiotic / MGI
increased sensitivity to induced morbidity/mortality / MGI
increased sensitivity to xenobiotic induced morbidity/mortality / MGI
abnormal melanoblast morphology / MGI
abnormal melanoblast migration / MGI
variable depigmentation / MGI
increased gastrointestinal tumor incidence / MGI
abnormal survival / MGI
abnormal myenteric nerve plexus morphology / MGI
lethality, incomplete penetrance / MGI
lethality at weaning, incomplete penetrance / MGI
postnatal lethality, complete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
perinatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality, complete penetrance / MGI
embryonic lethality before implantation, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
preweaning lethality, incomplete penetrance / MGI
increased erythroblast number / MGI
increased erythrocyte protoporphyrin level / MGI
decreased tail pigmentation / MGI
decreased ear pigmentation / MGI
glomerular crescent / MGI
increased or absent threshold for auditory brainstem response / MGI
abnormal circulating histamine level / MGI

Literature references

Variant isoforms of CD44 are required in early thymocyte development.;Schwärzler C, Oliferenko S, Günthert U, ;2001;European journal of immunology;31;2997-3005; 11592076
Prevention of genetic anemias in mice by microinjection of normal hematopoietic stem cells into the fetal placenta.;Fleischman R A, Mintz B, ;1979;Proceedings of the National Academy of Sciences of the United States of America;76;5736-40; 42904

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6Rcc.Cg-Cd44tm2.1Ugu KitW/Cnrm