STRAIN INFORMATION


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
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.
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
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
STATUS INFORMATION
Mutant Status
Cryopreserved Embryos
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