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Allele : Cacna1c<tm2Itl> calcium channel, voltage-dependent, L type, alpha 1C subunit; targeted mutation 2, inGenious Targeting Laboratory

Primary Identifier  MGI:5296904 Allele Type  Targeted
Attribute String  Humanized sequence, Null/knockout Gene  Cacna1c
Transmission  Germline Strain of Origin  (C57BL/6NTac x 129S6/SvEvTac)F1
Is Recombinase  false Is Wild Type  false
molecularNote  A G to A transition at the end of exon 8 results in a G406R mutation which appears to be a gain of function mutation that is embryonic lethal in both hetero- and homozygotes. The insertion of an FRT:loxP flanked-inverted Neo cassette 301 bp downstream of the G->A point mutation introduces a stop codon in alternative exon 8A (which is mutually exclusive with exon 8) and ameliorates the lethality of the point mutation in heterozygotes.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • CaV1.2<TS>,
  • Ts2-neo,
  • Ts2-neo,
  • CaV1.2<TS>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

15 Publication categories

Trail: Allele