Tmem98^em2Jkn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem98^em2Jkn
• Name: transmembrane protein 98; endonuclease-mediated mutation 2, Ian J Jackson
• MGI ID: MGI:6355419
• Synonyms: Tmem98^A193P
• Gene: Tmem98 Location: Chr11:80701192-80712859 bp, + strand Genetic Position: Chr11, Syntenic
• Alliance: Tmem98^em2Jkn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 mutagenesis induced a mutation at codon 193, altering from one encoding alanine to one encoding proline (p.Ala193Pro). (J:277123)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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 Tmem98 Mutation: 25 strains or lines available

References

• Original: J:277123 Cross SH, et al., Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2875-2887
• All: 1 reference(s)