Version: 8.0.0
Date: Tue Jan 28 2025
Ighmbp2em1Cll
MGI:7314213
Allele of Ighmbp2
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ighmbp2em1Cll

Species
Mus musculus
Symbol
Ighmbp2em1Cll
Category
allele
Allele of gene
Ighmbp2
Transgenic Constructs
None
Synonyms
  • Ighmbp2D564N
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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