- 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/Ieg
Status | Available to order |
EMMA ID | EM:00184 |
International strain name | C3HeB/FeJ-Myo6Mhdatlc/Ieg |
Alternative name | Tlc, tail chaser |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Myo6Mhdatlc, |
Gene/Transgene symbol | Myo6 |
Information from provider
Provider | Martin Hrabe de Angelis |
Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
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 | Head tossing. |
References |
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Information from EMMA
Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
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
- 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
- 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
- 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
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