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Pitx2egl1
Chemically induced Allele Detail
Nomenclature
Symbol: Pitx2egl1
Name: paired-like homeodomain transcription factor 2; early-onset glaucoma 1
MGI ID: MGI:6275111
Gene: Pitx2  Location: Chr3:129199878-129219591 bp, + strand  Genetic Position: Chr3, 57.84 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced G to T transversion at position 344 in exon 2 is predicted to cause the arginine at amino acid 115 to become a leucine. (J:269565)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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 Pitx2 Mutation:  12 strains or lines available
References
Original:  J:269565 Chang B, et al., A new mouse model of early-onset glaucoma. Invest Ophthalmol Vis Sci. 2017 June;58(8):2125
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory