C3HeB/FeJ-Fgfr1^Hspy/IegWtsiCnbc

Status	Available to order
EMMA ID	EM:04921
Citation information	RRID:IMSR_EM:04921 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3HeB/FeJ-Fgfr1^Hspy/IegWtsiCnbc
Alternative name	Hushpuppy Fgfr1
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Fgfr1^Hspy
Gene/Transgene symbol	Fgfr1

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Prof. M. Hrabé de Angelis, Helmholtz Zentrum München, Neuherberg, Germany
Genetic information	A new missense mutation induced by ENU in Fgfr1.
Phenotypic information	A new ENU-induced semi-dominant Fgfr1 mutation leading to pinna defects, middle ear ossicle malformations and mild skull anomalies in heterozygotes, with reduced penetrance. Homozygotes die in mid-gestation.
Breeding history	Originated from ENU mutagenesis programme in Munich, Helmholtz Zentrum, on a C3HeB/FeJ background and bred on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since.
References	Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects.;Pau Henry, Fuchs Helmut, de Angelis Martin Hrabé, Steel Karen P, ;2005;The Laryngoscope;115;116-24; 15630379
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

Disease and phenotype information

MGI allele-associated human disease models

otitis media / DOID:10754

Orphanet associated rare diseases, based on orthologous gene matching

Pilomyxoid astrocytoma / Orphanet_251615
Encephalocraniocutaneous lipomatosis / Orphanet_2396
Hartsfield syndrome / Orphanet_2117
Normosmic congenital hypogonadotropic hypogonadism / Orphanet_432
Kallmann syndrome / Orphanet_478
Osteoglosphonic dysplasia / Orphanet_2645
Semilobar holoprosencephaly / Orphanet_220386
Pfeiffer syndrome type 1 / Orphanet_93258
Oligodontia / Orphanet_99798
Isolated trigonocephaly / Orphanet_3366
Septo-optic dysplasia spectrum / Orphanet_3157
Holoprosencephaly / Orphanet_2162

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
abnormal embryo size / IMPC
embryonic growth retardation / IMPC
embryonic lethality prior to tooth bud stage / IMPC
increased respiratory quotient / IMPC

MGI phenotypes (allele matching)

small ears / MGI
abnormal snout morphology / MGI
short snout / MGI
abnormal outer ear morphology / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
hearing/vestibular/ear phenotype / MGI
abnormal ear shape / MGI
lowered ear position / MGI
abnormal inner ear morphology / MGI
abnormal middle ear morphology / MGI
short mandible / MGI
abnormal pinna reflex / MGI
increased susceptibility to otitis media / MGI
abnormal ear physiology / MGI
decreased cochlear outer hair cell number / MGI
decreased endocochlear potential / MGI
abnormal cochlear nerve compound action potential / MGI
short nasal bone / MGI
small cranium / MGI
abnormal incudostapedial joint morphology / MGI
abnormal auditory bulla morphology / MGI
abnormal incus short process morphology / MGI
abnormal incus long process morphology / MGI
absent incus lenticular process / MGI
abnormal incus body morphology / MGI
absent stapes head / MGI
abnormal stapes posterior crus morphology / MGI
small round window / MGI
absent round window / MGI
excessive cerumen / MGI
abnormal embryonic-extraembryonic boundary morphology / MGI
embryonic growth retardation / MGI
embryonic lethality between somite formation and embryo turning, complete penetrance / MGI

MGI phenotypes (gene matching)

small ears / MGI
abnormal ear shape / MGI
abnormal ear position / MGI
lowered ear position / MGI
abnormal inner ear morphology / MGI
abnormal malleus morphology / MGI
absent middle ear ossicles / MGI
abnormal organ of Corti morphology / MGI
abnormal middle ear morphology / MGI
premature cranial suture closure / MGI
short mandible / MGI
abnormal basisphenoid bone morphology / MGI
cleft palate / MGI
abnormal vertebrae morphology / MGI
abnormal rib morphology / MGI
rib bifurcation / MGI
rib fusion / MGI
abnormal cartilage development / MGI
abnormal heart development / MGI
abnormal heart tube morphology / MGI
enlarged heart / MGI
abnormal craniofacial morphology / MGI
abnormal snout morphology / MGI
short snout / MGI
increased rib number / MGI
abnormal forelimb morphology / MGI
abnormal carpal bone morphology / MGI
syndactyly / MGI
oligodactyly / MGI
short tail / MGI
abnormal tongue morphology / MGI
abnormal cerebellum vermis morphology / MGI
abnormal midbrain morphology / MGI
decreased body size / MGI
ocular hypertelorism / MGI
abnormal pinna reflex / MGI
decreased caudal vertebrae number / MGI
abnormal embryo development / MGI
abnormal mesoderm development / MGI
abnormal somite development / MGI
failure of somite differentiation / MGI
failure of primitive streak formation / MGI
abnormal gastrulation / MGI
decreased embryo size / MGI
abnormal visceral yolk sac morphology / MGI
absent visceral yolk sac blood islands / MGI
embryonic growth arrest / MGI
increased susceptibility to otitis media / MGI
neonatal lethality / MGI
abnormal developmental patterning / MGI
abnormal embryonic tissue morphology / MGI
abnormal extraembryonic tissue morphology / MGI
abnormal embryonic growth/weight/body size / MGI
abnormal limb morphology / MGI
abnormal digit morphology / MGI
abnormal tail morphology / MGI
abnormal axial skeleton morphology / MGI
abnormal craniofacial bone morphology / MGI
abnormal neural tube morphology / MGI
abnormal brain morphology / MGI
no abnormal phenotype detected / MGI
abnormal gastrulation movements / MGI
abnormal outer ear morphology / MGI
abnormal primitive streak morphology / MGI
abnormal cochlear hair cell morphology / MGI
short tibia / MGI
abnormal chorion morphology / MGI
abnormal neural crest cell migration / MGI
no phenotypic analysis / MGI
vertebral transformation / MGI
abnormal thoracic vertebrae morphology / MGI
spina bifida / MGI
abnormal egg cylinder morphology / MGI
absent tympanic ring / MGI
abnormal alisphenoid bone morphology / MGI
abnormal cochlear sensory epithelium morphology / MGI
kinked neural tube / MGI
abnormal neural tube closure / MGI
abnormal ear physiology / MGI
abnormal rostral-caudal body axis extension / MGI
abnormal embryonic epiblast morphology / MGI
abnormal embryonic-extraembryonic boundary morphology / MGI
embryonic growth retardation / MGI
caudal body truncation / MGI
failure of heart looping / MGI
absent organ of Corti supporting cells / MGI
increased cochlear inner hair cell number / MGI
decreased cochlear outer hair cell number / MGI
absent cochlear outer hair cells / MGI
decreased endocochlear potential / MGI
abnormal cochlear nerve compound action potential / MGI
abnormal pterygoid bone morphology / MGI
short nasal bone / MGI
abnormal orientation of inner hair cell stereociliary bundles / MGI
enlarged allantois / MGI
absent limb buds / MGI
broad limb buds / MGI
abnormal cochlear hair cell development / MGI
abnormal cervical axis morphology / MGI
cervical vertebral transformation / MGI
lumbar vertebral transformation / MGI
sacral vertebral transformation / MGI
thoracic vertebral transformation / MGI
abnormal thoracic cage morphology / MGI
decreased lumbar vertebrae number / MGI
decreased thoracic vertebrae number / MGI
increased thoracic vertebrae number / MGI
long incisors / MGI
abnormal neural fold formation / MGI
abnormal blastocyst morphology / MGI
increased osteoblast cell number / MGI
abnormal tarsal bone morphology / MGI
abnormal middle ear ossicle morphology / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
abnormal rostral-caudal axis patterning / MGI
abnormal palatine bone morphology / MGI
abnormal viscerocranium morphology / MGI
abnormal phalanx morphology / MGI
small cranium / MGI
homeostasis/metabolism phenotype / MGI
hearing/vestibular/ear phenotype / MGI
growth/size/body region phenotype / MGI
vision/eye phenotype / MGI
abnormal neural plate morphology / MGI
decreased tympanic ring size / MGI
abnormal tail development / MGI
abnormal second pharyngeal arch morphology / MGI
small second pharyngeal arch / MGI
absent second pharyngeal arch / MGI
absent somites / MGI
abnormal styloid process morphology / MGI
abnormal sternocostal joint morphology / MGI
absent gonial bone / MGI
craniorachischisis / MGI
bleb / MGI
craniofacial asymmetry / MGI
decreased inferior colliculus size / MGI
abnormal secondary palate development / MGI
postaxial polydactyly / MGI
abnormal neural crest cell morphology / MGI
failure of palatal shelf elevation / MGI
abnormal hyoid bone lesser horn morphology / MGI
abnormal lateral plate mesoderm morphology / MGI
malleus hypoplasia / MGI
fusion of atlas and occipital bones / MGI
integument phenotype / MGI
postnatal lethality, complete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality, complete penetrance / MGI
embryonic lethality between implantation and somite formation, complete penetrance / MGI
embryonic lethality between somite formation and embryo turning, 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 between implantation and somite formation, incomplete penetrance / MGI
embryonic lethality between somite formation and embryo turning, incomplete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
abnormal primitive endoderm morphology / MGI
excessive folding of visceral yolk sac / MGI
small proamniotic cavity / MGI
abnormal neural fold morphology / MGI
abnormal head fold morphology / MGI
abnormal head mesenchyme morphology / MGI
decreased somite size / MGI
increased or absent threshold for auditory brainstem response / MGI
midface hypoplasia / MGI
small visceral yolk sac / MGI
decreased paraxial mesoderm size / MGI
increased axial mesoderm size / MGI
abnormal posterior primitive streak morphology / MGI
second pharyngeal arch hypoplasia / MGI
abnormal maxillary-premaxillary suture morphology / MGI
abnormal visceral yolk sac endoderm morphology / MGI
abnormal visceral yolk sac mesenchyme morphology / MGI
tympanic ring hypoplasia / MGI
facial asymmetry / MGI
incus hypoplasia / MGI
abnormal incudostapedial joint morphology / MGI
abnormal retrotympanic process morphology / MGI
middle ear ossicle hypoplasia / MGI
small gonial bone / MGI
stapes hypoplasia / MGI
abnormal auditory bulla morphology / MGI
styloid process hypoplasia / MGI
premature coronal suture closure / MGI
premature sagittal suture closure / MGI
premature metopic suture closure / MGI
abnormal incus short process morphology / MGI
abnormal incus long process morphology / MGI
absent incus lenticular process / MGI
abnormal incus body morphology / MGI
absent stapes head / MGI
abnormal stapes posterior crus morphology / MGI
small round window / MGI
absent round window / MGI
excessive cerumen / MGI
premature maxillary-premaxillary suture closure / MGI
increased osteoblast proliferation / MGI
abnormal notochordal process morphology / MGI

Literature references

Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects.;Pau Henry, Fuchs Helmut, de Angelis Martin Hrabé, Steel Karen P, ;2005;The Laryngoscope;115;116-24; 15630379

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Practical information

Genotyping protocol

Example health report
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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.

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Legally binding conditions for the transfer

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C3HeB/FeJ-Fgfr1Hspy/IegWtsiCnbc