IMPC phenotypes (allele matching)
C3HeB/FeJ-Myo7aHdb/Ieg
| Status | Available to order |
| EMMA ID | EM:01663 |
| International strain name | C3HeB/FeJ-Myo7aHdb/Ieg |
| Alternative name | Headbanger |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Myo7aHdb, |
| Gene/Transgene symbol | Myo7a |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Additional owner | Originally detected by the ENU mutagenesis programme at the Helmholtz Zentrum Muenchen by Helmut Fuchs and Martin Hrabe de Angelis. |
| Genetic information | An A to T transversion at position 531 in exon 6 of Myo7a was identified and is predicted to cause an isoleucine-to-phenylalanine amino acid substitution at position 178. |
| Phenotypic information | Heterozygote headbanger (Hdb/+) mutants display classic behavior indicative of vestibular dysfunction including hyperactivity and head bobbing, have raised cochlear thresholds especially at low frequencies, and abnormal stereocilia bundle development from an early age. Homozygotes showed a similar but more severe phenotype. |
| Breeding history | Stock frozen as embryos: maintained in a closed colony of C3HeB/FeJ for over ten years but not always by sib matings. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 1 / Orphanet_231169
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Usher syndrome type 2 / Orphanet_231178
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (allele matching)
- hyperactivity / MGI
- head bobbing / MGI
- abnormal vestibular hair cell stereociliary bundle morphology / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- fused inner hair cell stereocilia / MGI
- increased cochlear nerve compound action potential / MGI
- decreased outer hair cell stereocilia number / MGI
- decreased inner hair cell stereocilia number / MGI
Literature references
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
- A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.;Rhodes Charlotte R, Hertzano Ronna, Fuchs Helmut, Bell Rachel E, de Angelis Martin Hrabé, Steel Karen P, Avraham Karen B, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;686-97; 15389316
- Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety.;Avni Reut, Elkan Tal, Dror Amiel A, Shefer Shachar, Eilam David, Avraham Karen B, Mintz Matti, ;2009;Behavioural brain research;202;210-7; 19463703
- Progressive vestibular mutation leads to elevated anxiety.;Shefer Shahar, Gordon Carlos R, Avraham Karen B, Mintz Matti, ;2010;Brain research;1317;157-64; 20043895