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Allele : Tgfbr1<tm1.1Sya> transforming growth factor, beta receptor I; targeted mutation 1.1, Satoru Yamada

Primary Identifier  MGI:7431255 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Tgfbr1
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A G to T change a position 563 (c.563G>T) resulting in a glycine to valine substitution at codon 188 (p.G188V) was introduced in exon 3 along with a floxed neomycin resistance cassette downstream of exon 3. The neomycin resistance cassette was removed via cre-mediated recombination. This is a missense mutation identified in a patient with Loeys-Dietz syndrome showing severe periodontitis.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Tgfbr1<G188V>,
  • Tgfbr1<G188V>
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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

3 Publication categories

Trail: Allele