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| Nomenclature |
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Symbol:
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CrygeElo
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Name:
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crystallin, gamma E;
eye lens obsolescence
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MGI ID: |
MGI:1857599 |
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Synonyms: |
CrygeCat2-Elo, ELO |
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Gene:
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Cryge
Location:
Chr1:65048554-65051149 bp, - strand
Genetic Position: Chr1,
32.8 cM
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Mutation
origin |
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Strain of Origin:
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(C57BL/6JNga x Japanese fancy mouse (Oca2p))F4
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: 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)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: Congenital Cataracts in heterozygous mice (J:15383)
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| References |
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Original: |
J:15383
Oda SI et al.,
"A new mutation, eye lens obsolescence, Elo, on Chromosome 1 in the mouse"
Jpn J Genet 1980;55():71-5
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All: |
7 reference(s)
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Analysis Tools
