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Allele : Crybb2<Phil> crystallin, beta B2; Philly cataract

Primary Identifier  MGI:1857342 Allele Type  Spontaneous
Attribute String  Modified isoform(s) Gene  Crybb2
Inheritance Mode  Not Specified Strain of Origin  Swiss Webster
Is Recombinase  false Is Wild Type  false
molecularNote  A 12 bp in-frame deletion in the coding region of the gene resulted in the absence of amino acids 203-206 of the encoded protein. These amino acids are predicted to be required for either folding or stabilization of the protein. A total absence of a 27 kDa Beta-crystallin and its messenger RNA was shown, although other Beta-crystallins occur throughout the lens (J:8166).
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Crybb2<Phil/G>,
  • Crybb2<Phil/G>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

7 Publication categories