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| Nomenclature |
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Symbol:
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Pax6Sey-Neu
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Name:
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paired box gene 6;
small eye, Neuherberg
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MGI ID: |
MGI:1856158 |
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Synonyms: |
ENU-2029, Pax6-, Pax61-NeuSey, Pax6Sey-1Neu, Pax6Sey-Neu1, Sey1N, Sey-neu, SeyNeu |
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Gene:
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Pax6
Location:
Chr2:105668896-105703160 bp, + strand
Genetic Position: Chr2,
55.31 cM
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Mutation
origin |
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Strain of Origin:
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(102/El x C3H/Rl)F1
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A G to T transversion at the +1 position of a splice donor site results in the retention of 116 nucleotides of intronic sequence in the encoded mRNA. The predicted protein would contain both the paired box and homeodomain but would lack the 115 amino acids from the C terminus, including the transactivation domain, due to a frameshift and stop codon in the intronic sequences remaining in the mRNA. (J:2301)
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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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Disease models
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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 |
Chimeric mice created from BALB/c and Pax6Sey/Sey-Neu exhibit reduction in lens and nasal epithelium tissue size, abnormal optic cup morphology and exclusion of Pax6Sey/Sey-Neu cells from the lens, nasal epithelium and retinal pigmented epithelium (J:31747).
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| References |
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Original: |
J:177480
Favor J et al.,
"The effect of dose fractionation on the frequency of ethylnitrosourea-induced dominant cataract and recessive specific locus mutations in germ cells of the mouse."
Mutat Res 1988 Apr;198(2):269-75
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All: |
58 reference(s)
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Analysis Tools
