Family Identifier |
NMF118 |
Synonym(s) |
C57BL/6J-nmf118/J; JR#4747 |
Synopsis |
Small with body tremor; mutants are hearing impaired. |
Gene Symbol |
nmf118 (View MGI Record) |
Gene |
neuroscience mutagenesis facility118 |
Allele Symbol |
nmf118 (View MGI Record) |
Allele |
neuroscience mutagenesis facility118 |
Abnormal Assay(s) |
Assay: Grip strength
Domain(s): Movement/Neuromuscular Function
Assay: Body weight
Domain(s): Growth/Development
; Visible Mutants
Assay: Auditory brain stem response (ABR)
Domain(s): Auditory/Vestibular
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Phenotype Description |
The mutants are small, show body tremor, and slightly abnormal movement of hind limbs; toes are frequently curled and the foot pads do not make proper contact with the ground. In addition, abnormal results in two phenotypic screens were observed: grip strength and Auditory brainstem response (ABR). Of two mutants tested for grip strength, one showed reduced values, and of four mutants tested for ABR, two were deaf, one showed reduced hearing ability at 16 and 32 Hz, and one tested normal. These results, combined with the pathology findings, suggest that these are mutants with hearing abnormalities.
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Pathology Report |
Standard pathology work-up on two mutants (110 or 150 days of age) showed degenerating muscle fibers mixed with giant fibers in the spinal muscle. A deficiency of neurons in the spiral ganglia and an absence of hair cells were noted in the ear. Standard pathology performed on a much younger mutant (36 days of age) revealed no abnormalities. |
HERITABILITY AND MAPPING INFORMATION
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Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 10 heterozygous matings produced 9 affected mice in a total of 57 progeny. |
Chromosome |
10 |
Molecular Interval |
D10Mit180 - 4.7 cM - D10Mit271 -12.6 cM - nmf118; linkage D10Mit271, LOD = 6.7 |
Map
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
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Comments |
Please note: 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.
(9) NMF118 have been requested by and distributed to 2 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |