Cblb^em1Geha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cblb^em1Geha
• Name: Cbl proto-oncogene b; endonuclease-mediated mutation 1, Raif S Geha
• MGI ID: MGI:7388208
• Synonyms: Cblb^H257L
• Gene: Cblb Location: Chr16:51851593-52028410 bp, + strand Genetic Position: Chr16, 32.88 cM
• Alliance: Cblb^em1Geha page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to T change at position 770 (c.770A>T) resulting in a histidine to leucine substitution at amino acid 257 (p.H257L). This corresponds to a p.H285L mutation found in a patient with early-onset autoimmunity and chronic urticaria. (J:331430)

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 Cblb Mutation: 59 strains or lines available

References

• Original: J:331430 Janssen E, et al., Immune dysregulation caused by homozygous mutations in CBLB. J Clin Invest. 2022 Oct 17;132(20):e154487
• All: 1 reference(s)