STRAIN INFORMATION
Family Identifier
 NMF2
Synonym(s)
 Scn8anmf2; Scn8a4J; C57BL/6J-Scn8a4J/J; JR#4102
Synopsis
 Early onset bilateral hind limb paralysis; the mutants are small.
Gene Symbol
 Scn8a (View MGI Record)
Gene
 Sodium channel, voltage-gated, type VIII, alpha polypeptide
Allele Symbol
 Scn8anmf2 (View MGI Record)
Allele
 neuroscience mutagenesis facility2
Abnormal Assay(s)
 Assay: Overt movement/posture

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

Assay: Body weight

   Domain(s): Growth/Development
Phenotype Description
 The mutants lose function of hind limbs bilaterally between 13-18 days (mean 15.25 +/-.2 days; n=13) and die between 3 and 5 weeks of age. Mutants of either gender have been produced, however homozygotes are not viable. A series of complementation tests was performed to show that NMF2 is an allele of Scn8a; 2 matings between NMF5/+ and NMF2/+ resulted in 2 affected mice in a total of 13 progeny, and since NMF5 has been shown to be an allele of NMF58, NMF2 can also be regarded as an allele of NMF58. Recent sequencing data confirmed the allelic relationship of NMF58 and Scn8a, and therefore also those of NMF2, NMF5, and Scn8a (Mammalian Genome, 15,4, 2004).
Pathology Report
 Standard pathology work-up on 4 mutants (age 18-19 days) showed no muscle atrophy or necrosis. Additional histology of hindlimb muscles showed no evidence of reinnervation/regeneration and normal neuromuscular junction morphology in all mice. One mutant had severe hydrocephaly. Standard eye histology on one mutant and one control littermate (age 16 days) showed no abnormalities.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygote matings produced 8 affected mice in a total of 23 progeny.
Chromosome
 15
Molecular Interval
 see Scn8a
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. (18) NMF2 have been requested by and distributed to 3 investigators.
Contact e-Mail Address
 nmf-mice@jax.org