STRAIN INFORMATION
Family Identifier
 NMF11
Synonym(s)
 C57BL/6J-nmf11/J; JR#4109
Synopsis
 Impaired gait, mutants are small; abnormal ERG.
Gene Symbol
 nmf11 (View MGI Record)
Gene
 neuroscience mutagenesis facility11
Allele Symbol
 nmf11 (View MGI Record)
Allele
 neuroscience mutagenesis facility11
Abnormal Assay(s)
 Assay: Overt movement/posture

   Domain(s): Visible Mutants ; Movement/Neuromuscular Function

Assay: Body weight

   Domain(s): Growth/Development

Assay: Electroretinogram (ERG)

   Domain(s): Eye/Vision
Phenotype Description
 Early onset visible phenotype characterized by severely impaired gait that becomes detectable between 18-21 days (mean 18.6 +/- 1.7 days). Gently dropping the animals from a height of 10-15cm onto a soft surface frequently induces intense seizure-like behavior that may last several minutes (generalized seizure-like episodes, including front and hind limb contractions, hind limb extensions); however the animals recover and continue to move around. Electroretinograms showed abnormal b-waves in three (2 males, 1 female) of four mutants examined. Mutants of either gender have been produced; homozygotes are not viable.
Pathology Report
 Standard pathology work-up on five mutants (age 18-23 days) suggested a possible delay in myelination, however, additional pathology (2 mutants and 1 normal 22 day old littermate) showed this not to be the case. Three of five mutants also had atrophic thymus, small spleen and little or no white fat. In two mutants, apoptotic cells were seen in the inner aspect of the dentate gyrus, and in one mutant, a small focal necrosis was present in the paraspinal muscles. Standard eye histology on one mutant and one control littermate (age 23 days) showed no abnormalities.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygote matings produced 6 affected mice in a total of 25 progeny.
Chromosome
 11
Molecular Interval
 D11Mit188 - 14.2 cM - NMF11 - 18.1 cM - D11Mit4
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. (14) NMF11 have been requested by and distributed to 4 investigators.
Contact e-Mail Address
 nmf-mice@jax.org