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Pitx3eyl
Spontaneous Allele Detail
Nomenclature
Symbol: Pitx3eyl
Name: paired-like homeodomain transcription factor 3; eyeless
MGI ID: MGI:4429408
Synonyms: Pitx3416insG
Gene: Pitx3  Location: Chr19:46135685-46148326 bp, - strand  Genetic Position: Chr19, 38.75 cM
Eye abnormalities in Pitx3eyl/Pitx3eyl 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 detailsA 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)
Phenotypes
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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:156878)

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)

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
04/07/2015
MGI 5.21
The Jackson Laboratory