Cacng2<stg> Spontaneous Allele Detail MGI Mouse (MGI:1856548)

Cacng2^stg
Spontaneous Allele Detail

Summary

Symbol:	Cacng2^stg
Name:	calcium channel, voltage-dependent, gamma subunit 2; stargazer
MGI ID:	MGI:1856548
Synonyms:	gamma2^stg, stg, stg^-
Gene:	Cacng2 Location: Chr15:77875948-78004228 bp, - strand Genetic Position: Chr15, 36.92 cM
Alliance:	Cacng2^stg page

The Cacng2^stg/Cacng2^stg mouse

Show the 3 phenotype image(s) involving this allele.

Mutation
origin

Strain of Origin:

A/J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Transposon insertion
		Mutation details: The phenotype of the stargazer mouse has been attributed to an early transposon (ETn) insertion into intron 2 of the Cacng2 gene. RT-PCR analysis demonstrated that in addition to aberrant transcripts generated by the insertion, some normally spliced mRNA was detected, suggesting that this mutation does not represent a complete null allele. (J:48966)
Inheritance:		Recessive

Phenotypes

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

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

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 Cacng2 Mutation:	26 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Absence Epilepsy J:192431, J:155872, J: 226251.

References

Original:	J:11008 Noebels JL, et al., Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures [published erratum appears in Epilepsy Res 1992 Mar;11(1):72]. Epilepsy Res. 1990 Nov;7(2):129-35
All:	68 reference(s)

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