Hnrnph2^em1Jpat
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hnrnph2^em1Jpat
• Name: heterogeneous nuclear ribonucleoprotein H2; endonuclease-mediated mutation 1, J Paul Taylor
• MGI ID: MGI:7539577
• Synonyms: Hnrnph2^em2Jpat, Hnrnph2^P209L
• Gene: Hnrnph2 Location: ChrX:133501928-133507809 bp, + strand Genetic Position: ChrX, 56.2 cM
• Alliance: Hnrnph2^em1Jpat page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 842 (corresponds to c.626C>T on Build GRCm39) resulting in a proline to leucine substitution at position 209 (p.P209L). (J:338313)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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)