Pitx3^ak
Spontaneous Allele Detail

Summary

• Symbol: Pitx3^ak
• 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: Pitx3^ak page

Mutation origin

• Strain of Origin: 129S1/Sv-Kitl^Sl-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

Disease models

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)