B6;129-Cdkn1c^tm1Bbd/Cnbc

Status	Available to order
EMMA ID	EM:08025
International strain name	B6;129-Cdkn1c^tm1Bbd/Cnbc
Alternative name	Cdkn1c or p57Kip2_KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Cdkn1c^tm1Bbd
Gene/Transgene symbol	Cdkn1c

Information from provider

Provider	Mariano Barbacid
Provider affiliation	Molecular Oncology, Centro Nacional de Investigaciones Oncologicas
Genetic information	Deletion of 1.1 kb of genomic sequence that includes the Cdkn1c first exon and part of the second exon, encoding amino acid residues 1-181 of the protein. No protein was detected in Western blots of lysates of primary embryo fibroblasts derived from homozygous mutant mice.
Phenotypic information	Homozygous: Most Cdkn1c (Kip2 or p57) null mice die after birth and display severe developmental defects with varying degrees of penetrance. Heterozygous mice that inherit a maternal, but not a paternal, targeted allele exhibit similar deficiencies and neonatal death. Developmental defects of Cdkn1c mutant mice include cleft palate and gastrointestinal abnormalities. Most Cdkn1c mutant mice have short limbs, a defect attributable to abnormal endochondral ossification caused by delayed cell cycle exit during chondrocyte differentiation. Heterozygous: Heterozygous mice that inherit a maternal, but not a paternal, targeted allele exhibit similar deficiencies and neonatal death.
Breeding history	Mutation introduced in R1 ES cells. Chimeras were bred with C57BL/6J females. Heterozygous mice were bred among themselves to generate homozygous mice or to C57BL/6J animals to propagate the targeted allele. Maintained currently in mixed background: 129S1/Sv,129X1/SvJ and C57BL/6 (at least 80%).
References	Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.;Yan Y, Frisén J, Lee M H, Massagué J, Barbacid M, ;1997;Genes & development;11;973-83; 9136926 p57(Kip2) cooperates with Nurr1 in developing dopamine cells.;Joseph Bertrand, Wallén-Mackenzie Asa, Benoit Gérard, Murata Takashi, Joodmardi Eliza, Okret Sam, Perlmann Thomas, ;2003;Proceedings of the National Academy of Sciences of the United States of America;100;15619-24; 14671317 Identification and characterisation of imprinted genes in the mouse.;Peters Jo, Beechey Colin, ;2004;Briefings in functional genomics & proteomics;2;320-33; 15163367
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain
Animals used for archiving	heterozygous 0, wild-type mixed 129/SvJ, C57BL/6
Stage of embryos	4/8-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Beckwith-Wiedemann syndrome due to CDKN1C mutation / Orphanet_231120
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome / Orphanet_436144
Silver-Russell syndrome due to a point mutation / Orphanet_397590
IMAGe syndrome / Orphanet_85173

IMPC phenotypes (gene matching)

edema / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (allele matching)

cleft palate / MGI
abnormal intestine morphology / MGI
short limbs / MGI
abnormal suckling behavior / MGI
paternal imprinting / MGI
absent gastric milk in neonates / MGI
neonatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
abnormal long bone epiphysis morphology / MGI
absent jejunum / MGI
abnormal midbrain morphology / MGI
abnormal ileum morphology / MGI
abnormal digestive system development / MGI
abnormal soft palate morphology / MGI
abnormal duodenum morphology / MGI
delayed endochondral bone ossification / MGI
abnormal hard palate morphology / MGI
abnormal bone ossification / MGI
meteorism / MGI
palatal shelves fail to meet at midline / MGI
increased midbrain apoptosis / MGI
abnormal digestive system morphology / MGI
abnormal skeleton development / MGI
abnormal limb bone morphology / MGI
abnormal craniofacial bone morphology / MGI

MGI phenotypes (gene matching)

delayed bone ossification / MGI
cleft palate / MGI
abnormal long bone epiphysis morphology / MGI
abnormal vertebrae morphology / MGI
abnormal rib morphology / MGI
abnormal digestive system morphology / MGI
abnormal intestine morphology / MGI
absent jejunum / MGI
cortical renal glomerulopathies / MGI
small inner medullary pyramid / MGI
short limbs / MGI
enlarged adrenal glands / MGI
herniated abdominal wall / MGI
abnormal skeletal muscle morphology / MGI
abnormal midbrain morphology / MGI
abnormal female reproductive system morphology / MGI
vagina atresia / MGI
abnormal male reproductive system morphology / MGI
decreased body weight / MGI
decreased body size / MGI
cataract / MGI
abnormal retina morphology / MGI
abnormal suckling behavior / MGI
cyanosis / MGI
abnormal placenta morphology / MGI
abnormal placenta labyrinth morphology / MGI
postnatal growth retardation / MGI
decreased brown adipose tissue amount / MGI
female infertility / MGI
delayed sexual maturation / MGI
respiratory distress / MGI
abnormal skeleton development / MGI
abnormal limb bone morphology / MGI
abnormal craniofacial bone morphology / MGI
abnormal kidney morphology / MGI
abnormal fertility/fecundity / MGI
abnormal gland morphology / MGI
no abnormal phenotype detected / MGI
short gestation period / MGI
abnormal spleen white pulp morphology / MGI
abnormal ileum morphology / MGI
abnormal renal tubule morphology / MGI
absent ovarian follicles / MGI
increased systemic arterial blood pressure / MGI
increased urine protein level / MGI
abnormal brown adipose tissue morphology / MGI
omphalocele / MGI
abnormal long bone epiphyseal plate morphology / MGI
abnormal digestive system development / MGI
paternal imprinting / MGI
abnormal soft palate morphology / MGI
dysphagia / MGI
thrombocytopenia / MGI
abnormal lens epithelium morphology / MGI
abnormal abdominal wall morphology / MGI
abnormal duodenum morphology / MGI
delayed endochondral bone ossification / MGI
uterus atresia / MGI
abnormal uterus development / MGI
abnormal kidney medulla development / MGI
abnormal long bone morphology / MGI
abnormal hard palate morphology / MGI
abnormal testis development / MGI
embryonic growth retardation / MGI
abnormal jejunum morphology / MGI
abnormal kidney papilla morphology / MGI
decreased fetal size / MGI
abnormal spongiotrophoblast layer morphology / MGI
enlarged placenta / MGI
split sternum / MGI
decreased length of long bones / MGI
uterus atrophy / MGI
increased placenta weight / MGI
abnormal trophoblast giant cell morphology / MGI
abnormal humerus morphology / MGI
abnormal renal glomerulus morphology / MGI
renal/urinary system phenotype / MGI
growth/size/body region phenotype / MGI
digestive/alimentary phenotype / MGI
skeleton phenotype / MGI
vision/eye phenotype / MGI
hematopoietic system phenotype / MGI
abnormal lens development / MGI
increased systemic arterial systolic blood pressure / MGI
abnormal interscapular fat pad morphology / MGI
increased diameter of long bones / MGI
abnormal bone ossification / MGI
abnormal endochondral bone ossification / MGI
abnormal intramembranous bone ossification / MGI
increased lens epithelium apoptosis / MGI
meteorism / MGI
absent gastric milk in neonates / MGI
hydrometra / MGI
abnormal prostate gland development / MGI
palatal shelves fail to meet at midline / MGI
cleft secondary palate / MGI
mortality/aging / MGI
postnatal lethality, complete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
vacuolated lens / MGI
increased midbrain apoptosis / MGI
abnormal seminal vesicle development / MGI

Literature references

Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.;Yan Y, Frisén J, Lee M H, Massagué J, Barbacid M, ;1997;Genes & development;11;973-83; 9136926
p57(Kip2) cooperates with Nurr1 in developing dopamine cells.;Joseph Bertrand, Wallén-Mackenzie Asa, Benoit Gérard, Murata Takashi, Joodmardi Eliza, Okret Sam, Perlmann Thomas, ;2003;Proceedings of the National Academy of Sciences of the United States of America;100;15619-24; 14671317
Identification and characterisation of imprinted genes in the mouse.;Peters Jo, Beechey Colin, ;2004;Briefings in functional genomics & proteomics;2;320-33; 15163367

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

Genotyping protocol

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

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6;129-Cdkn1ctm1Bbd/Cnbc