- dry eyes / MGI
- postnatal lethality / MGI
- abnormal external female genitalia morphology / MGI
- clitoris hypoplasia / MGI
- keratoconjunctivitis sicca / MGI
- abnormal lateral semicircular canal morphology / MGI
- abnormal stationary movement / MGI
- circling / MGI
- head bobbing / MGI
- abnormal motor coordination/ balance / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- abnormal placing response / MGI
- abnormal stapes footplate morphology / MGI
- increased cochlear outer hair cell number / MGI
- abnormal round window morphology / MGI
- abnormal stapes morphology / MGI
C3HeB/FeJ-Chd7Flo/IegWtsiCnbc
Status | Available to order |
EMMA ID | EM:05017 |
International strain name | C3HeB/FeJ-Chd7Flo/IegWtsiCnbc |
Alternative name | Flouncer |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Chd7Flo, |
Gene/Transgene symbol | Chd7 |
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-bobbing. |
Genetic information | A mutation in the splice donor site resulted in the S1864X substitution. This mutation putatively results in a protein lacking only the most C-terminal NLS, SANT, and BRK domains. |
Phenotypic information | Flouncer hets show dominant head-bobbing and circling behaviour due to truncations of the lateral semicircular canal of the inner ear. Heterozygous mutant mice show a range of defects with reduced penetrance, such as cleft palate, choanal atresia, septal defects of the heart, haemorrhages, prenatal death, vulva and clitoral defects and keratoconjunctivitis sicca. Homozygotes die in early development. |
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 |
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Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Omenn syndrome / Orphanet_39041
- Normosmic congenital hypogonadotropic hypogonadism / Orphanet_432
- Kallmann syndrome / Orphanet_478
- CHARGE syndrome / Orphanet_138
MGI phenotypes (allele matching)
Literature references
- Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.;Bosman Erika A, Penn Andrew C, Ambrose John C, Kettleborough Ross, Stemple Derek L, Steel Karen P, ;2005;Human molecular genetics;14;3463-76; 16207732
- Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation.;Pau Henry, Hawker Kelvin, Fuchs Helmut, De Angelis Martin Hrabé, Steel Karen P, ;2004;Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology;25;707-13; 15353999
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