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Allele : Col2a1<Rgsc413> collagen, type II, alpha 1; RIKEN Genomic Sciences Center (GSC), 413

Primary Identifier  MGI:3800691 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Col2a1
Inheritance Mode  Dominant Strain of Origin  C57BL/6JJcl
Is Recombinase  false Is Wild Type  false
Project Collection  RIKEN GSC ENU Project
molecularNote  ENU mutagenesis induced an A to C point mutation that results in the amino acid substitution of serine for tyrosine at position 1391 (Y1391S). This mutation is present in patients with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T).
  • mutations:
  • Single point mutation
  • synonyms:
  • M100413,
  • M100413
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories