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Allele : Smcr8<m2Btlr> Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 2, Bruce Beutler

Primary Identifier  MGI:6272382 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Smcr8
Inheritance Mode  Recessive Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  A to G transition at base pair 60,778,028 (v38) on chromosome 11, or base pair 504 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 504 (c.504A>G) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in a methionine (M) to valine (V) substitution at position 1 (M1V) in the SMCR8 protein (p.M1V).
  • mutations:
  • Single point mutation
  • synonyms:
  • patriot2,
  • patriot2
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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

3 Publication categories

Trail: Allele