- circling / MGI
- impaired balance / MGI
- abnormal placing response / MGI
- vestibular hair cell degeneration / MGI
- cochlear hair cell degeneration / MGI
- cochlear inner hair cell degeneration / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- abnormal cochlear hair cell development / MGI
- head tossing / MGI
- absent pinna reflex / MGI
- retropulsion / MGI
C3HeB/FeJ-Myo6Mhdatlc/IegWtsiCnbc
Status | Available to order |
EMMA ID | EM:05018 |
International strain name | C3HeB/FeJ-Myo6Mhdatlc/IegWtsiCnbc |
Alternative name | Tailchaser |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Myo6Mhdatlc, |
Gene/Transgene symbol | Myo6 |
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 | Sequencing of cDNA extracted and amplified from heterozygous brains revealed a c.G694T transversion in a region that corresponds to exon 6 of the gene. This mutation is predicted to result in an aspartic acid to tyrosine amino acid substitution at the highly conserved position 179 of the encoded protein. |
Phenotypic information | Tlc/+ mutants display classic behavioural symptoms of a vestibular dysfunction, including head-shaking and circling. Behavioural testing of ageing mice revealed a gradual deterioration of both hearing and balance function, associated with hair bundle defects of sensory hair cells. Homozygotes are more severely affected. |
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
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome / Orphanet_228012
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (allele matching)
Literature references
- Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.;Kiernan A E, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel K P, Avraham K B, ;1999;Journal of neurocytology;28;969-85; 10900098
- A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.;Hertzano Ronna, Shalit Ella, Rzadzinska Agnieszka K, Dror Amiel A, Song Lin, Ron Uri, Tan Joshua T, Shitrit Alina Starovolsky, Fuchs Helmut, Hasson Tama, Ben-Tal Nir, Sweeney H Lee, de Angelis Martin Hrabe, Steel Karen P, Avraham Karen B, ;2008;PLoS genetics;4;e1000207; 18833301
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