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Allele : Col3a1<tm1.1Jeu> collagen, type III, alpha 1; targeted mutation 1.1, Xavier Jeunemaitre

Primary Identifier  MGI:7367589 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Col3a1
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  An FRT-flanked pgk-neo cassette was inserted upstream of exon 6 and a copy of exon 6 with a G to A mutation at position 547 resulting in an G to R substitution at amino acid 182 was inserted via homologous recombination. Flp mediated recombination removed the pgk-neo cassette. The mutation in exon 6 is homologous to the most common type of COL3A1 disease-causing genetic variant in human Vascular Ehlers-Danlos syndrome patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Col3a1<G182R>,
  • Col3a1<G182R>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories