- decreased circulating HDL cholesterol level / IMPC
- decreased body length / IMPC
- decreased body weight / IMPC
- hyperactivity / IMPC
- decreased circulating alanine transaminase level / IMPC
- decreased lean body mass / IMPC
- decreased lumbar vertebrae number / IMPC
- abnormal behavior / IMPC
- decreased circulating cholesterol level / IMPC
- decreased circulating serum albumin level / IMPC
- decreased circulating total protein level / IMPC
- decreased circulating aspartate transaminase level / IMPC
- decreased circulating fructosamine level / IMPC
C3HeB/FeJ-Chd7Whi/IegWtsiCnbc
Status | Available to order |
EMMA ID | EM:04923 |
International strain name | C3HeB/FeJ-Chd7Whi/IegWtsiCnbc |
Alternative name | Whirligig, Chd7 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Chd7Whi, |
Gene/Transgene symbol | Chd7 |
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 | ENU-induced mutation at proximal chromosome 4. |
Phenotypic information | Circling, head-bobbing and hyperactive mutant, maps to proximal chromosome 4. Phenotype indistinguishable from Chd7 mutations. |
Breeding history | Originated from ENU mutagenesis programme in Munich, Helmholtz Centrum, 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
- Omenn syndrome / Orphanet_39041
- Normosmic congenital hypogonadotropic hypogonadism / Orphanet_432
- Kallmann syndrome / Orphanet_478
- CHARGE syndrome / Orphanet_138
IMPC phenotypes (allele matching)
MGI phenotypes (allele matching)
- circling / MGI
- hyperactivity / MGI
- head bobbing / MGI
- abnormal superior semicircular canal morphology / MGI
- absent lateral semicircular canal / MGI
- decreased lateral semicircular canal size / MGI
- increased cochlear inner hair cell number / MGI
- increased cochlear outer hair cell number / MGI
- abnormal round window morphology / MGI
- abnormal stapes morphology / MGI
- hearing/vestibular/ear phenotype / MGI
- decreased body weight / MGI
- dry eyes / MGI
- edema / MGI
- hemorrhage / MGI
- postnatal lethality / MGI
- abnormal outer ear morphology / MGI
- abnormal internal nares morphology / MGI
- head shaking / MGI
- abnormal external female genitalia morphology / MGI
- abnormal digit development / MGI
- clitoris hypoplasia / MGI
- abnormal secondary palate development / MGI
- cleft secondary palate / MGI
- decreased total body fat amount / MGI
- ventricular septal defect / MGI
- keratoconjunctivitis sicca / MGI
- decreased palatal rugae number / MGI
Literature references
- Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.;Hawker Kelvin, Fuchs Helmut, Angelis Martin Hrabéde, Steel Karen P, ;2005;International journal of audiology;44;171-7; 15916118
- 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
- Study of smell and reproductive organs in a mouse model for CHARGE syndrome.;Bergman Jorieke E H, Bosman Erika A, van Ravenswaaij-Arts Conny M A, Steel Karen P, ;2010;European journal of human genetics : EJHG;18;171-7; 19809474
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.;Randall Victoria, McCue Karen, Roberts Catherine, Kyriakopoulou Vanessa, Beddow Sarah, Barrett Angela N, Vitelli Francesca, Prescott Katrina, Shaw-Smith Charles, Devriendt Koen, Bosman Erika, Steffes Georg, Steel Karen P, Simrick Subreena, Basson M Albert, Illingworth Elizabeth, Scambler Peter J, ;2009;The Journal of clinical investigation;119;3301-10; 19855134
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