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Allele : Col2a1<sedc> collagen, type II, alpha 1; spondyloepiphyseal dysplasia congenita
Primary Identifier  MGI:2676325 Allele Type  Spontaneous
Gene  Col2a1 Inheritance Mode  Recessive
Strain of Origin  Mixed stock Is Recombinase  false
Is Wild Type  false
molecularNote  Sequence analysis identified a point mutation in exon 49 that changed codon 1124 from CGC to TGC, resulting in substitution of arginine with cysteine (p.Arg1124Cys).
  • mutations:
  • Single point mutation
  • synonyms:
  • Col2a1<sed>,
  • Col2a1<sed>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

6 Publication categories

Trail: Allele




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