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Scn2atm1Mml
Targeted Allele Detail
Nomenclature
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: Chr2:65620771-65767447 bp, + strand  Genetic Position: Chr2, 38.61 cM
Mutation
origin
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+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsMost 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
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:  7 strains or lines available
References
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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory