- 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
C3HeB/FeJ-Fgfr1Hspy/IegWtsiCnbc
Status | Available to order |
EMMA ID | EM:04921 |
International strain name | C3HeB/FeJ-Fgfr1Hspy/IegWtsiCnbc |
Alternative name | Hushpuppy Fgfr1 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Fgfr1Hspy, |
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 |
|
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
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
MGI phenotypes (allele matching)
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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