Ighmbp2^em1Cll
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ighmbp2^em1Cll
• Name: immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 1, Christian L Lorson
• MGI ID: MGI:7314213
• Synonyms: Ighmbp2^D564N
• Gene: Ighmbp2 Location: Chr19:3309076-3333011 bp, - strand Genetic Position: Chr19, 3.03 cM
• Alliance: Ighmbp2^em1Cll page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a GAT to AAC change resulting in a aspartic acid to asparagine substitution at amino acid 564 (D564N) in exon 12. The human equivalent D565N mutation has been identified in spinal muscular atrophy with respiratory distress type I (SMARD1 patients. (J:326540)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Ighmbp2 Mutation: 46 strains or lines available

References

• Original: J:326540 Smith CE, et al., The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects. Hum Mol Genet. 2022 Apr 22;31(8):1293-1307
• All: 1 reference(s)