Hnrnph2^em2Jpat
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hnrnph2^em2Jpat
• Name: heterogeneous nuclear ribonucleoprotein H2; endonuclease-mediated mutation 2, J Paul Taylor
• MGI ID: MGI:7539576
• Synonyms: Hnrnph2^em1Jpat, Hnrnph2^R206W
• Gene: Hnrnph2 Location: ChrX:133501928-133507809 bp, + strand Genetic Position: ChrX, 56.2 cM
• Alliance: Hnrnph2^em2Jpat page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 833 and a C to G change at position 835 (corresponds to c.616_618delCGCinsTGG on Build GRCm39) , resulting in an arginine to tryptophan substitution at amino acid 206 (p.R206W). (J:338313)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Hnrnph2 Mutation: 9 strains or lines available

References

• Original: J:338313 Korff A, et al., A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1. J Clin Invest. 2023 Jul 17;133(14)
• All: 1 reference(s)