Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Scn2atm1Mml
Name:	sodium channel, voltage-gated, type II, alpha; targeted mutation 1, Mauricio Montal
MGI ID:	MGI:2180186
Synonyms:	NaCh(alphaII)-
Gene:	Scn2a  Location: Chr2:65451115-65597791 bp, + strand  Genetic Position: Chr2, 38.61 cM
Alliance:	Scn2atm1Mml page

Germline Transmission:	Earliest citation of germline transmission: J:76457
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Most of exon 1, which encodes amino acids 1-89, was replaced with a neomycin resistance gene via homologous recombination. RNase protection assays using whole brain preparations from homozygous mutant animals revealed a greater than 85% reduction in gene expression compared to wild-type. Protein expression was barely detectable as determined by Western blot analysis. (J:76457)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scn2a Mutation:	90 strains or lines available

Original:	J:76457 Planells-Cases R, et al., Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice. Biophys J. 2000 Jun;78(6):2878-91
All:	11 reference(s)