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Allele : Rims4<m2Btlr> regulating synaptic membrane exocytosis 4; muation 2, Bruce Beutler

Primary Identifier  MGI:6114733 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Rims4
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced G to A transition at base pair 163,864,865 (v38) on chromosome 2, or base pair 54,126 in the GenBank genomic region NC_000068 within the donor splice site of intron 5. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic splice site in exon 5. The use of a cryptic splice site would result in a transcript with a 42-base pair deletion in exon 5 and an in-frame deletion of 14 amino acids (amino acids 185-198).
  • mutations:
  • Single point mutation
  • synonyms:
  • diminutive,
  • diminutive
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories