- abnormal inner ear vestibule morphology / MGI
- head shaking / MGI
- increased cochlear inner hair cell number / MGI
- abnormal otic vesicle development / MGI
- abnormal cochlea morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- circling / MGI
- limb grasping / MGI
- impaired righting response / MGI
- abnormal inner ear canal morphology / MGI
- absent lateral semicircular canal / MGI
- renal hypoplasia / MGI
- abnormal crista ampullaris morphology / MGI
- small vestibular saccule / MGI
- absent incus / MGI
- small utricle / MGI
- decreased cochlear inner hair cell number / MGI
- abnormal common crus morphology / MGI
- inner ear hypoplasia / MGI
- absent pinna reflex / MGI
C3HeB/FeJ-Six1Cwe/IegWtsiCnbc
Status | Available to order |
EMMA ID | EM:05016 |
International strain name | C3HeB/FeJ-Six1Cwe/IegWtsiCnbc |
Alternative name | Catweasel |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Six1Cwe, |
Gene/Transgene symbol | Six1 |
Information from provider
Provider | Karen Steel |
Provider affiliation | Wellcome Trust Sanger Institute |
Additional owner | Helmholtz Zentrum Muenchen carried out the mutagenesis and discovered the head-bobing. |
Genetic information | ENU mutagenesis induced an A to G transition at position 411 resulting in an amino acid substitution of glycine for glutamic acid at position 135 (E135G). This mutation in the homeobox is predicted to cause destabilisation of DNA binding. |
Phenotypic information | Cwe/Cwe animals lack Preyer and righting reflexes, display severe headshaking and have severely truncated cochlea and semicircular canals. Cwe/Cwe animals had very few hair cells in the utricle, but their ampullae and cochlea were devoid of any hair cells. Heterozygotes show a mild head-bobbing behaviour. |
Breeding history | Originated from ENU mutagenesis programme in Munich on a C3HeB/FeJ background and maintained on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since. |
References |
|
Homozygous fertile | not known |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | not known |
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
- Branchiootic syndrome / Orphanet_52429
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
- BOR syndrome / Orphanet_107
MGI phenotypes (allele matching)
Literature references
- Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.;Bosman Erika A, Quint Elizabeth, Fuchs Helmut, Hrabé de Angelis Martin, Steel Karen P, ;2009;Developmental biology;328;285-96; 19389353
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).