Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol: Pitx3eyl Name: paired-like homeodomain transcription factor 3; eyeless MGI ID: MGI:4429408 Synonyms: Pitx3416insG Gene: Pitx3  Location: Chr19:46124124-46136765 bp, - strand  Genetic Position: Chr19, 38.75 cM Alliance: Pitx3eyl page

Eye abnormalities in Pitx3eyl/Pitx3eyl mice Show the 2 phenotype image(s) involving this allele.

Strain of Origin:

C3H/He

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)

View phenotypes and curated references for all genotypes (concatenated display).

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

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

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:	1 reference(s)