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Chemically induced Allele Detail
Symbol: Pax2M1Bpb
Name: paired box 2; mutation 1, Brian P Brooks
MGI ID: MGI:4442602
Synonyms: Pax2A220G, Pax2 (p.T74A)
Gene: Pax2  Location: Chr19:44756045-44837851 bp, + strand  Genetic Position: Chr19, 38.09 cM
Ocular abnormalities in Pax2M1Bpb/Pax2+ mice

Show the 3 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsENU mutagenesis induced an A to G transition at position 220 (no source sequence accession number provided) resulting in the amino acid subsitution of alanine for threonine at position 74 (T74A). Reduced steady-state protein levels were confirmed by western blot analysis on embryo extracts. (J:159240)
Inheritance:    Dominant
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pax2 Mutation:  18 strains or lines available
Original:  J:159240 Alur RP, et al., Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. PLoS Genet. 2010;6(3):e1000870
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory