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| Nomenclature |
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Symbol:
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Pitx3eyl
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Name:
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paired-like homeodomain transcription factor 3;
eyeless
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MGI ID: |
MGI:4429408 |
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Synonyms: |
Pitx3416insG |
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Gene:
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Pitx3
Location:
Chr19:46135685-46148375 bp, - strand
Genetic Position: Chr19,
38.75 cM
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Eye abnormalities in Pitx3eyl/Pitx3eyl mice
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: Parkinson Disease (J:156878)
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
