STRAIN INFORMATION


Family Identifier
NMF371
Synonym(s)
Myo7ash1-11J; C57BL/6J-Myo7ash1-11J/J; Myo7ash1-11J; JR#5468
Synopsis
Circling (bi-directional), head tilt and head tossing behavior; the mutants are deaf.
Gene Symbol
Myo7a (View MGI Record)
Gene
myosin VIIa
Allele Symbol
Myo7anmf371 (View MGI Record)
Allele
neuroscience mutagenesis facility371
Abnormal Assay(s)
Assay: Auditory brain stem response (ABR)

   Domain(s): Auditory/Vestibular

Assay: Overt movement/posture

   Domain(s): Visible Mutants
Phenotype Description
The mutants were identified through head tilt, body leaning and bi-directional circling behavior at wean (average onset at 3.5 +/- 0.6 weeks of age; n=31); they also show head tossing behavior. ABR testing showed the mutants to be deaf at all frequencies (8, 16, 32KHz) tested. Because of phenotypic and genotypic similarities to mutants of Myo7a, complementation tests were performed with B6.Cg-Myo7ash1-8J/J (JR#3184); the results of two heterozygous by homozygous matings (5 affected in a total of 24 progeny) suggest that nmf371 represents an allele of Myo7a.   (View video)
Pathology Report
Serial sections of the ears of two mutants (160 days of age) revealed a virtual absence of organ of corti, spiral ganglion cells, hair cells or normal otoconia; whole ear exam also showed defective otoconia. Standard pathology work-up revealed no further abnormalities.
HERITABILITY AND MAPPING INFORMATION
Background Strain
C57BL/6J
Heritability Mode
Recessive
Heritability Status
Proven; 3 different heterozygote x heterozygote matings produced 6 mutants in a total of 22 progeny; 1 homozygote x heterozygote mating produced 9 mutants in a total of 15 progeny.
Chromosome
7
Molecular Interval
see Myo7a
Map
STATUS INFORMATION
Mutant Status
Cryopreserved Embryos
Comments
(8) NMF371 have been requested by and distributed to 2 investigator.
Contact e-Mail Address
nmf-mice@jax.org