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Allele : Crx<tm1Smgc> cone-rod homeobox; targeted mutation 1, Shiming Chen

Primary Identifier  MGI:5699593 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Crx
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 4 was modified to contain a 2 base pair deletion in the transactivation domain (E168d2) linked to early onset severe autosomal dominant forms of cone-rod dystrophy (adCoRD) and Leber Congenital Amaurosis (adLCA). This mutation results in a frameshift and premature truncation of the expected product.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Crx<E168d2neo>,
  • Crx<E168d2neo>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele