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| Nomenclature |
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Symbol:
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Pitx3ak
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Name:
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paired-like homeodomain transcription factor 3;
aphakia
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MGI ID: |
MGI:1856667 |
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Synonyms: |
ak |
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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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Mutation
origin |
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Strain of Origin:
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129S1/Sv-KitlSl-J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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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:98209, J:104915)
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| References |
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Original: |
J:5084
Varnum DS et al.,
"Aphakia, a new mutation in the mouse."
J Hered 1968 Mar-Apr;59(2):147-50
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All: |
32 reference(s)
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Analysis Tools
