Cacng4^tm1Frk
Targeted Allele Detail

Summary

• Symbol: Cacng4^tm1Frk
• Name: calcium channel, voltage-dependent, gamma subunit 4; targeted mutation 1, Wayne N Frankel
• MGI ID: MGI:3521945
• Synonyms: g4tml
• Gene: Cacng4 Location: Chr11:107623183-107685383 bp, - strand Genetic Position: Chr11, 70.29 cM, cytoband E1
• Alliance: Cacng4^tm1Frk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:96506
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: A lacZ gene was inserted in frame into exon 4 of the gene. A fusion protein consisting of part of Cacng4 and beta-galactosidase is expressed from this allele. (J:96506)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Cacng4^tm1Frk/Cacng4^tm1Frk	B6.129-Cacng4^tm1Frk
hm2	Cacng4^tm1Frk/Cacng4^tm1Frk	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
cx3	Cacng2^stg-wag/Cacng2^stg-wag Cacng4^tm1Frk/Cacng4^tm1Frk	involves: B6.MRL-Cacng2^stg-wag/J * B6.129-Cacng4^tm1Frk/J
cx4	Cacng2^stg-3J/Cacng2^stg-3J Cacng4^tm1Frk/Cacng4^tm1Frk	involves: B6C3-Cacng2^stg-3J/J * B6.129-Cacng4^tm1Frk/J
cx5	Cacng2^stg-3J/Cacng2^stg-3J Cacng4^tm1Frk/Cacng4^+	involves: B6C3-Cacng2^stg-3J/J * B6.129-Cacng4^tm1Frk/J
cx6	Cacng2^stg-3J/Cacng2^+ Cacng4^tm1Frk/Cacng4^+	involves: B6C3-Cacng2^stg-3J/J * B6.129-Cacng4^tm1Frk/J
cx7	Cacng2^stg/Cacng2^stg Cacng4^tm1Frk/Cacng4^tm1Frk	involves: B6C3Fe a/a-Cacng2^stg/J * B6.129-Cacng4^tm1Frk/J

Phenotypes:

Affected Systems	hm1	hm2	cx3	cx4	cx5	cx6	cx7
show or hide all annotated terms
behavior/neurological			√	√	√	√
absence seizures			√	√	√	√
growth/size/body			√	√
decreased body size			√	√
mortality/aging							√
postnatal lethality, incomplete penetrance							√
prenatal lethality, incomplete penetrance							√
nervous system			√	√	√	√
absence seizures			√	√	√	√
normal phenotype	√	√
no abnormal phenotype detected	√	√

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

Expression

In Mice Carrying this Mutation:

17 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cacng4 Mutation: 15 strains or lines available

References

• Original: J:96506 Letts VA, et al., A targeted mutation in Cacng4 exacerbates spike-wave seizures in stargazer (Cacng2) mice. Proc Natl Acad Sci U S A. 2005 Feb 8;102(6):2123-8
• All: 1 reference(s)