|  Help  |  About  |  Contact Us

Allele : Ighmbp2<em1Cll> immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 1, Christian L Lorson

Primary Identifier  MGI:7314213 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ighmbp2
Strain of Origin  FVB/NJ Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Ighmbp2<D564N>,
  • Ighmbp2<D564N>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele