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Allele : Tg(Col2a1*G574S)1Waho transgene insertion 1, William A Horton

Primary Identifier  MGI:7261448 Allele Type  Transgenic
Attribute String  Dominant negative, Humanized sequence, Inserted expressed sequence Gene  Tg(Col2a1*G574S)1Waho
Is Recombinase  false Is Wild Type  false
molecularNote  A G to A change in exon 33 resulting in a glycine to serine substitution at amino acid 574 (Gly574Ser) was introduced slightly carboxy-terminal to the middle of the triple helical domain of the mouse type II collagen (Col2a1). This mutation was identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis, and acts as a dominant negative.
  • mutations:
  • Insertion
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele