Nhlrc2^em1Rhtl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nhlrc2^em1Rhtl
• Name: NHL repeat containing 2; endonuclease-mediated mutation 1, Reetta Hinttala
• MGI ID: MGI:6510804
• Synonyms: Nhlrc2^em1Rthl, Nhlrc2^FINCA
• Gene: Nhlrc2 Location: Chr19:56536693-56591935 bp, + strand Genetic Position: Chr19, 51.89 cM
• Alliance: Nhlrc2^em1Rhtl page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: A G-to-T mutation was engineered using crRNA, tracrRNA and an ssODN template with CRISPR/Cas9 technology. The c.442G>T mutation changes aspartic acid codon 148 to a tyrosine codon (p.Asp148Tyr), mimicking a mutation found in FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome patients. (J:299152)

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 Nhlrc2 Mutation: 28 strains or lines available

References

• Original: J:299152 Hiltunen AE, et al., Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease. Mol Med. 2020 Dec 9;26(1):123
• All: 1 reference(s)