Family Identifier |
NMF318 |
Synonym(s) |
C57BL/6J-nmf318/J; JR#5329 |
Synopsis |
The mutants are deaf, show circling and head tossing behavior.
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Gene Symbol |
nmf318 (View MGI Record) |
Gene |
neuroscience mutagenesis facility318 |
Allele Symbol |
nmf318 (View MGI Record) |
Allele |
neuroscience mutagenesis facility318 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Auditory/Vestibular
; Visible Mutants
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Phenotype Description |
Routine examination for auditory function at 4-5 weeks of age revealed the mutants to be deaf. Acoustic startle response and Auditory brain stem recordings yielded no response at every frequency and intensity tested (click, 8, 16, 32 KHz at 30-90 dB); circling and head tossing behavior can also be observed. Mutants of either gender have been produced and the colony is maintained through regular breeding.
(View video)
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Pathology Report |
Standard pathology work-up on two mutants (428 or 41 days of age) revealed a slight loss of Purkinje cells in the younger mutant. Serial Sections of the ears of the younger mutant showed atrophy in some portions of the organ of Corti. Whole-mount ear exam on the older mutant showed otoconia to be present and no abnormalities.
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HERITABILITY AND MAPPING INFORMATION
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Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 heterozygote x heterozygote matings resulted in 4 affected mice in a total of 15 progeny; 2 heterozygote x homozygote matings resulted in 15 affected mice in a total of 32 progeny.
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Chromosome |
17 |
Molecular Interval |
D17Mit16 - 7.7 cM (LOD 4.8) - [D17Mit24, D17Mit66, NMF318] 0 cM (LOD 7.8) - 3.9 cM (LOD 6.0) - D17Mit6 |
Map
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
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Comments |
Please note:1- The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org; 2- (5) NMF318 have been requested by and distributed to 1 investigator. |
Contact e-Mail Address |
nmf-mice@jax.org |