Family Identifier |
NMF111 |
Synonym(s) |
C57BL/6J-nmf111/J; JR#4812 |
Synopsis |
The mutants are small and show a subtle body tremor; thinning of peripheral retina. |
Gene Symbol |
nmf111 (View MGI Record) |
Gene |
neuroscience mutagenesis facility111 |
Allele Symbol |
nmf111 (View MGI Record) |
Allele |
neuroscience mutagenesis facility111 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Movement/Neuromuscular Function
; Visible Mutants
Assay: Body weight
Domain(s): Growth/Development
Assay: Eye histology
Domain(s): Histology
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Phenotype Description |
The mutants can easily be identified at wean by their small size and all develop a subtle body tremor that is apparent by 8 weeks of age, but may appear as early as 3-4 weeks (average time of onset 47.2+/-18.2 days); they walk low on their hind limbs, which also show intermittently a prolonged extension, making their movement appear to be 'hesitant'. A colony can be maintained through normal breeding.
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Pathology Report |
Standard pathology work-up on two mutants (183 days of age) showed thinning along the periphery of the retina. |
HERITABILITY AND MAPPING INFORMATION
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Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 5 heterozygote matings produced 9 affected mice in a total of 38 progeny. |
Chromosome |
4 |
Molecular Interval |
D4Mit111 - 9.6 cM - nmf111 - 6.4 cM - D4Mit178 - 2.5 cM - D4Mit80; linkage D4Mit178 - LOD = 8.9; D4Mit111 - LOD = 7.3; D4Mit80 - LOD = 6.9 (see comment below) |
Map
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
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Comments |
Alternative mapping area: D4Mit111 - 5.1 cM - D4Mit178 - 5.3 cM - nmf111 - 8.0 cM - D4Mit80.
Because of four apparent phenotypic mis-classifications the locus placement results that were received are slightly 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.
(12) NMF111 have been requested by and distributed to 2 investigators.
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Contact e-Mail Address |
nmf-mice@jax.org |