Frem2^em1Hali
Endonuclease-mediated Allele Detail

Summary

• Symbol: Frem2^em1Hali
• Name: Fras1 related extracellular matrix protein 2; endonuclease-mediated mutation 1, Haotian Lin
• MGI ID: MGI:6389577
• Synonyms: Frem2^R725X
• Gene: Frem2 Location: Chr3:53421359-53564776 bp, - strand Genetic Position: Chr3, 25.24 cM
• Alliance: Frem2^em1Hali page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T mutation at position 2173 resulting in an arginine to X change at amino acid 725 (R725X). This mutation corresponds to the R736X (c.2206C>T) mutation seen in a cryptophthalmos patient. (J:279933)

Disease models

Expression

In Mice Carrying this Mutation:	29 assay results
In Structures Affected by this Mutation:	7 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 Frem2 Mutation: 137 strains or lines available

References

• Original: J:279933 Zhang X, et al., Loss-of-function mutations in FREM2 disrupt eye morphogenesis. Exp Eye Res. 2019 Apr;181:302-312
• All: 2 reference(s)