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Pitx3ak
Spontaneous Allele Detail
Summary
Symbol: Pitx3ak
Name: paired-like homeodomain transcription factor 3; aphakia
MGI ID: MGI:1856667
Synonyms: ak
Gene: Pitx3  Location: Chr19:46124124-46136765 bp, - strand  Genetic Position: Chr19, 38.75 cM
Alliance: Pitx3ak page
Mutation
origin
Strain of Origin:  129S1/Sv-KitlSl-J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Deletion
 
Mutation details: This 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 and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 142 assay results
2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 13 anatomical structure(s)
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:  22 strains or lines available
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:  57 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory