Pitx2^egl1
Chemically induced Allele Detail

Summary

• Symbol: Pitx2^egl1
• Name: paired-like homeodomain transcription factor 2; early-onset glaucoma 1
• MGI ID: MGI:6275111
• Gene: Pitx2 Location: Chr3:128993527-129013240 bp, + strand Genetic Position: Chr3, 57.84 cM
• Alliance: Pitx2^egl1 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This 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

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 39 strains or lines available

References

• Original: J:269565 Chang B, et al., A new mouse model of early-onset glaucoma. Invest Ophthalmol Vis Sci. 2017-06;58(8):2125
• All: 2 reference(s)