Scn8a<med-jo> Spontaneous Allele Detail MGI Mouse (MGI:1856080)

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Scn8a^med-jo
Spontaneous Allele Detail

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

Summary

Symbol:	Scn8a^med-jo
Name:	sodium channel, voltage-gated, type VIII, alpha; jolting
MGI ID:	MGI:1856080
Synonyms:	jo, med^jo
Gene:	Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
Alliance:	Scn8a^med-jo page

Mutation
origin

Strain of Origin:

DBA/2WyDi

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A transition point mutation that altered coding nucleotide 3949 from G-to-A, which replaces the alanine at residue 1317 with threonine (p.A1317T). The mutation is located in a region of the ion channel that is predicted to encode the cytoplasmic linker between integral membrane segments S4 and S5 in domain III. (J:35567)
Inheritance:		Recessive

Phenotypes

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

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 Scn8a Mutation:	99 strains or lines available

References

Original:	J:15056 Dickie MM, Jolting. Mouse News Lett. 1965;32:44
All:	13 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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