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Chemically induced Allele Detail
Symbol: Pax6Sey-Neu
Name: paired box 6; small eye, Neuherberg
MGI ID: MGI:1856158
Synonyms: ENU-2029, Pax6-, Pax61-NeuSey, Pax6Sey-1Neu, Pax6Sey-Neu1, Sey1N, Sey-neu, SeyNeu
Gene: Pax6  Location: Chr2:105668900-105697364 bp, + strand  Genetic Position: Chr2, 55.31 cM
Strain of Origin:  (102/El x C3H/Rl)F1
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsA 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)
Inheritance:    Semidominant
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 99 assay results
In Structures Affected by this Mutation: 20 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pax6 Mutation:  67 strains or lines available
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).
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
All:  69 reference(s)

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