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Allele : Cacna2d4<lob> calcium channel, voltage-dependent, alpha 2/delta subunit 4; loss of b-wave

Primary Identifier  MGI:3665263 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Cacna2d4
Inheritance Mode  Recessive Strain of Origin  C57BL/10
Is Recombinase  false Is Wild Type  false
molecularNote  A frameshift mutation caused by an insertion of a C residue at nt 2367 was identified. The mutation introduces a premature stop codon that truncates one third of the predicted encoded protein. A severe reduction in expressed transcript levels observed in mutant retinas probably results in the lack of encoded protein.
  • mutations:
  • Insertion
  • synonyms:
  • c.2451insC,
  • c.2451insC
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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

7 Publication categories

Trail: Allele