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Allele : Crygd<Lop12> crystallin, gamma D; lens opacity 12

Primary Identifier  MGI:1858026 Allele Type  Spontaneous
Gene  Crygd Inheritance Mode  Semidominant
Strain of Origin  BALB/cJ x SJL/J Is Recombinase  false
Is Wild Type  false
description  Both homozygous and heterozygous mutant mice develop cataracts by one month of age. The catarats demonstrate prominent reactive fibrous proliferation surrounding extruded lens cortical fragments, accompanied by focal, mild lymphocytic infiltration. Homozygous mice have eyes that are smaller than wildtype, whereas the heterozygote mouse has an eye size that is intermediate (J:60856).
molecularNote  A G-to-A transition (C-to-T on forward strand) at coding nucleotide position 470 in exon 3 creates a premature termination signal by changing tryptophan codon 157 to a stop codon (p.W157*) and results in a truncated protein after amino acid 156.
  • mutations:
  • Single point mutation
  • synonyms:
  • Lop12,
  • Lop12
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

4 Carried By

0 Driven By

5 Publication categories