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Pitx3ak
Spontaneous Allele Detail
Nomenclature
Symbol: Pitx3ak
Name: paired-like homeodomain transcription factor 3; aphakia
MGI ID: MGI:1856667
Synonyms: ak
Gene: Pitx3  Location: Chr19:46135685-46148326 bp, - strand  Genetic Position: Chr19, 38.75 cM
Mutation
origin
Strain of Origin:  129S1/Sv-KitlSl-J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Deletion
 
Mutation detailsThis allele carries a 652 bp deletion in the promoter region of the gene, located 2.5 kb upstream of the transcription start site. The deletion cosegregated with the aphakia phenotype. In situ hybridization studies of homozygous mutant mice did not detect transcripts in the lens placode or at later developmental stages of the lens. (J:63167, J:68175)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 23 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 Pitx3 Mutation:  8 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Parkinson Disease (J:98209, J:104915, J:218546)

References
Original:  J:5084 Varnum DS, et al., Aphakia, a new mutation in the mouse. J Hered. 1968 Mar-Apr;59(2):147-50
All:  39 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory