Pitx3^eyl
Spontaneous Allele Detail

Summary

• Symbol: Pitx3^eyl
• Name: paired-like homeodomain transcription factor 3; eyeless
• MGI ID: MGI:4429408
• Synonyms: Pitx3^416insG
• Gene: Pitx3 Location: Chr19:46124124-46136765 bp, - strand Genetic Position: Chr19, 38.75 cM
• Alliance: Pitx3^eyl page

Eye abnormalities in Pitx3^eyl/Pitx3^eyl mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3H/He

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: A guanosine was inserted at position 416 in exon 4 in addition to two C3H/He-specific polymorphisms. This insertion creates a frameshift after amino acid position 139. The predicted peptide contains 260 amino acids instead of 302 amino acids. Expression levels are not affected. (J:156878)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 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

Notes

The C3H congenic strain in which this mutation was discovered bore a QTL derived from 102/El that had been backcrossed onto C3H from a descendant of a T stock x (C3H/He x 102/El)F1 cross. (J:75213)

References

• Original: J:156878 Rosemann M, et al., Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. Mamm Genome. 2010 Feb;21(1-2):13-27
• All: 2 reference(s)