A single base (G) deletion at nucleotide position 403 (codon 135) in the fourth ""Greek key"" motif of the Cryge gene product, causes a frameshift mutation that can translate for another 11 amino acids before prematurely terminating (codon 146). The truncated peptide lacking the fourth ""Greek key"" probably leads to misfolding of the crystallin gene product and may act as a dominant negative. (J:2144)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6JNga x Japanese fancy mouse (Oca2p))F4
Spontaneous
Intragenic deletion
Semidominant
1
7
5

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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