About   Help   FAQ
Pax6Sey-Neu
Chemically induced Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  (102/El x C3H/Rl)F1
Mutation
description
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
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Mice Carrying this Mutation: 24 assay results
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:  47 strains or lines available
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).

References
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:  63 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/12/2015
MGI 5.21
The Jackson Laboratory