STRAIN INFORMATION
Family Identifier
 NMF430
Synonym(s)
 Tmhsnmf430; C57BL/6J-Tmhshscy-2J/J; Tmhshscy-2J; JR#5638
Synopsis
 Deaf with head and body tilt, circling behavior.
Gene Symbol
 Tmhs (View MGI Record)
Gene
 tetraspan transmembrane protein hair cell stereocilia
Allele Symbol
 Tmhsnmf430 (View MGI Record)
Allele
 neuroscience mutagenesis facility430
Abnormal Assay(s)
 Assay: Overt movement/posture

   Domain(s): Auditory/Vestibular ; Visible Mutants ; Movement/Neuromuscular Function

Assay: Auditory brain stem response (ABR)

   Domain(s): Auditory/Vestibular
Phenotype Description
 These mutants were identified through head tilt, body leaning and circling behavior which can be detected at wean. ABR testing at 5-6 weeks of age showed these mutants also to be deaf at every frequency tested (click, 8, 16, 32kHz). Male or female mutants have been produced, and a colony can be maintained through normal breeding. Because of the phenotype and the map position of this mutation, a complementation test with Tmhs (JR# 4640) has been performed; the results of two homozygote by heterozygote matings, i.e. 7 mutants in a total of 12 progeny, confirmed that nmf430 indeed respresents an allele of Tmhs.   (View video)
Pathology Report
 Standard pathology work-up on one mutant (265 days of age) showed no abnormalities, however, serial sections of the ears revealed a loss of both ganglionic cells and the organ of corti (to view a section of control tissue, see Zheng et al., 2005).
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 2 heterozygote x heterozygote matings resulted in 8 mutants in a total of 31 progeny; 1 heterozygote x homozygote mating resulted in 2 mutants in a total of 3 progeny.
Chromosome
 17
Molecular Interval
 see Tmhs
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
Comments
 (5) NMF430 or DNA-samples have been requested by and distributed to 1 investigator; cryopreservation pending.
Contact e-Mail Address
 nmf-mice@jax.org