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Allele : Tbl1xr1<em2H> transducin (beta)-like 1X-linked receptor 1; endonuclease-mediated mutation 2, Harwell

Primary Identifier  MGI:7469825 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tbl1xr1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an A to G (c.1337A>G) change resulting in a tyrosine to cysteine substitution at amino acid 446 (p.Y446C) in exon 14. This is a mutation reported as the genetic cause of Pierpont Syndrome.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tbl1xr1<Y446C>,
  • Tbl1xr1<Y446C>
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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