STRAIN INFORMATION
Family Identifier
 NMF110
Synonym(s)
 C57BL/6J-nmf110/J; JR#4811
Synopsis
 The mutants are small and have an unsteady gait; they are also deaf.
Gene Symbol
 nmf110 (View MGI Record)
Gene
 neuroscience mutagenesis facility110
Allele Symbol
 nmf110 (View MGI Record)
Allele
 neuroscience mutagenesis facility110
Abnormal Assay(s)
 Assay: Overt movement/posture

   Domain(s): Movement/Neuromuscular Function

Assay: Body weight

   Domain(s): Visible Mutants ; Growth/Development

Assay: Auditory brain stem response (ABR)

   Domain(s): Auditory/Vestibular
Phenotype Description
 The mutants are small and exhibit an unsteady gait, which can be detected at 4 weeks of age (+/- 0.48; n=21). A colony can be maintained through heterozygote matings. Two female mutants tested showed weights slightly (approximately 10%) below normal. Two mutants were tested for Fear-potentiated-startle and Acoustic startle response, and for each screen one mutant showed abnormal, one normal results. Unaffected littermates showed normal results (n=5). Similarily, Auditory brainstem responses (at 6 weeks of age) showed one mutant to be deaf and one to be severely hearing impaired (only a late response to a 8kHz stimulus at 90db was observed), while two unaffected littermates tested normal.
Pathology Report
 Standard pathology work-up on 3 mutants (113 - 161 days of age) showed dystrophic axons and a few abnormal muscle fibers. Large lobules of lymphocytes in the lung and mild hydrocephaly were also present in one mutant. Retinal degeneration, and a loss of hair cells, supporting cells and ganglionic cells of the ear were also observed in the oldest mutant.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygote matings produced 7 affected mice in a total of 48 progeny.
Chromosome
 18
Molecular Interval
 D18Mit184 - 8.9 cM - D18Mit210 - 3.7 cM - nmf110 - 10.6 cM - D18Mit213; linkage: D18Mit213 - LOD = 7.0; D18Mit210 - LOD = 9.2; D18Mit184 - LOD = 7.2 (see comment below)
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
Comments
 Alternative mapping area: D18Mit184 - 8.9 cM - nmf110 - 3.9 cM - D18Mit210 - 10.5 cM - D18Mit213. Because of some apparent phenotypic mis-classifications the locus placement results that were received are somewhat ambiguous; thus posted here are what is considered the most likely locus (above under 'Molecular Interval') and a second, (almost) equally likely locus (above); the overall mapping to the region is regarded as very solid. 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. (7) NMF110 have been requested by and distributed to 2 investigators.
Contact e-Mail Address
 nmf-mice@jax.org