Trim71^em1Ktka
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trim71^em1Ktka
• Name: tripartite motif-containing 71; endonuclease-mediated mutation 1, Kristopher T Kahle
• MGI ID: MGI:7661051
• Synonyms: Trim71^R595H
• Gene: Trim71 Location: Chr9:114340336-114393437 bp, - strand Genetic Position: Chr9, 64.54 cM
• Alliance: Trim71^em1Ktka page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an AGG to CAT change resulting in an arginine to histidine at amino acid 595 (p.R595H). This corresponds to a missense R608H mutation found in patients with hydrocephalus. (J:335575)

Disease models

Expression

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 Trim71 Mutation: 170 strains or lines available

References

• Original: J:335575 Duy PQ, et al., Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nat Neurosci. 2022 Apr;25(4):458-473
• All: 1 reference(s)