Myoc^tm2.1Rjo
Targeted Allele Detail

Summary

• Symbol: Myoc^tm2.1Rjo
• Name: myocilin; targeted mutation 2.1, Randy Johnson
• MGI ID: MGI:3693012
• Synonyms: Myoc^423H, Myoc^tm1Sj
• Gene: Myoc Location: Chr1:162466724-162477262 bp, + strand Genetic Position: Chr1, 70.29 cM
• Alliance: Myoc^tm2.1Rjo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:115971
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A targeting vector was designed to replace tyrosine 423 with histidine (T423H). Western blot demonstrated expression of mutant protein. (J:115971)

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 Myoc Mutation: 27 strains or lines available

References

• Original: J:115971 Gould DB, et al., Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol. 2006 Nov;26(22):8427-36
• All: 1 reference(s)