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Allele : Sema4c<m1Btlr> sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C; mutation 1, Bruce Beutler

Primary Identifier  MGI:6268787 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Sema4c
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced G to T transversion at base pair 36,550,311 (v38) on chromosome 1, or base pair 8,071 in the GenBank genomic region NC_000067 encoding Sema4c. The mutation corresponds to residue 2,251 in the NM_001304330 mRNA sequence in exon 16 of 16 total exons, to residue 2,136 in the NM_001126047 mRNA sequence in exon 15 of 15 total exons, and to residue 1,971 in the NM_001304329 mRNA sequence in exon 15 of 15 total exons. The mutation results in a cysteine (C) to phenylalanine (F) substitution at position 578 (C578F) in all isoforms of the SEMA4C protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • swirl,
  • swirl
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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