Crx^Rip
Spontaneous Allele Detail

Summary

• Symbol: Crx^Rip
• Name: cone-rod homeobox; retina with immature photoreceptors
• MGI ID: MGI:5515375
• Gene: Crx Location: Chr7:15599872-15613880 bp, - strand Genetic Position: Chr7, 8.6 cM
• Alliance: Crx^Rip page

Photoreceptor abnormalities in Crx^Rip/Crx⁺, Crx^Rip/Crx^Rip, and Crx^tm1Clc/Crx^tm1Clc retinas

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A spontaneous 1-bp deletion in exon 4 introduces a frame shift mutation that skips the C-terminal Otx-like domain and adds 133 unrelated residues. Western blot analysis confirmed the expression of the larger (44 kDa) than normal (34 kDa) protein in the retina. (J:203337)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Crx Mutation: 27 strains or lines available

References

• Original: J:203337 Roger JE, et al., OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J Clin Invest. 2014 Feb;124(2):631-43
• All: 3 reference(s)