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Allele : Ighmbp2<nmd-2J> immunoglobulin mu DNA binding protein 2; neuromuscular degeneration 2 Jackson

Primary Identifier  MGI:1857648 Allele Type  Spontaneous
Gene  Ighmbp2 Inheritance Mode  Recessive
Strain of Origin  BKS.Cg-Dock7<m> +/+ Lepr<db>/J Is Recombinase  false
Is Wild Type  false
molecularNote  An A-to-G transition mutation in intron 4 results in the creation of a cryptic splice site and interferes with the normal splicing of the transcript. RT-PCR analysis on RNA derived from various tissues of homozygous mice demonstrated that approximately 20-25% of the transcripts were spliced normally, while 75-80% of the transcripts were spliced aberrantly. This allele also presents with a deletion of one of the two leucine codons at position 362 and 363 in exon 8 (SW:P40694).
  • mutations:
  • Intragenic deletion,
  • Single point mutation
  • synonyms:
  • nmd<2J>,
  • nmd<2J>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

9 Carried By

0 Driven By

13 Publication categories