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Allele : Smcr8<m1Btlr> Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 1, Bruce Beutler

Primary Identifier  MGI:6272372 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Smcr8
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  T to C transition at base pair 60,778,032 (v38) on chromosome 11, or base pair 508 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 508 (c.508T>C) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 2 (I2T) in the SMCR8 protein (p.I2T).
  • mutations:
  • Single point mutation
  • synonyms:
  • patriot,
  • patriot
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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