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MUTANT LINE   NMF430 Contact JAX-NMF for ordering information
Synopsis:

Deaf with head and body tilt, circling behavior.

Detailed 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. 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).

View video

Abnormal Assays:Domain(s):
Overt movement/posture (view protocol) Auditory/Vestibular, Visible Mutants, Movement/Neuromuscular Function
Auditory brain stem response (ABR) (view protocol) Auditory/Vestibular


MUTANT LINE INFORMATION
Mutant Line Name
NMF430 (view more detail at Mutagenesis Center)
Gene Symbol Tmhs (view more info on gene)
Gene Name tetraspan transmembrane protein hair cell stereocilia
Allele Symbol Tmhsnmf430
Allele Name neuroscience mutagenesis facility430
MGI ID MGI:3611475 (view MGI record)
Originating Mutagenesis Center The Jackson Laboratory (contact for ordering information)
Mutation Type chemically induced mutation (CI)
Strain Designation C57BL/6J-Tmhsnmf430/J
Video view video


HERITABILITY AND MAPPING INFORMATION
Background Strain C57BL/6J
Mode of Inheritance Recessive
Heritability Proven
Chromosome Location 17
Mapping Interval see Tmhs
Identified Mutation
Map
(Click the image to zoom in.)
Image courtesy of MGI


STATUS INFORMATION
Availability
  • Cryopreserved embryos (EM)
Confirmation Date 02-Nov-2005
Availability Date 06-Feb-2006
Off-Shelf Date
Line History Comments (5) NMF430 or DNA-samples have been requested by and distributed to 1 investigator; cryopreservation pending.