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Allele : Acvr1<tm2.1Vlcg> activin A receptor, type 1; targeted mutation 2.1, Velocigene

Primary Identifier  MGI:5763014 Allele Type  Targeted
Attribute String  Conditional ready, Hypomorph Gene  Acvr1
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 5 and associated intronic sequence is replaced with a loxP site, the corresponding wild-type human exon 5 and associated intronic sequence, Lox2372 site, inverted exon 5 with a nucleotide substitution that results in the amino acid substitution of histidine for arginine at position 206 (R206H), loxP site, a small insert derived from rabbit hemoglobin beta intron 2, lox2372 site and FRT-flanked neomycin resistance cassette. Flp-mediated recombination removed the selection cassette. The R206H point mutation mimics one identified in humans as causing Fibrodysplasia Ossificans Progressiva (FOP). Prior to cre-mediated half of its transcripts lacked exon 5 resulting in a hypomorphic allele.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Acvr1<[R206H]FlEx>,
  • Acvr1<[R206H]FlEx>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

12 Publication categories

Trail: Allele