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Allele : Smcr8<m3Btlr> Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 3, Bruce Beutler

Primary Identifier  MGI:6272383 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Smcr8
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  A C to T transition at base pair 60,779,870 (v38) on chromosome 11, or base pair 2,346 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 2,346 (c.2346C>T) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in substitution of glutamine 615 for a premature stop codon (Q615*) in the SMCR8 protein (p.Q615*).
  • mutations:
  • Single point mutation
  • synonyms:
  • patriot3,
  • patriot3
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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