Ighmbp2^nmd-2J
Spontaneous Allele Detail

Summary

• Symbol: Ighmbp2^nmd-2J
• Name: immunoglobulin mu DNA binding protein 2; neuromuscular degeneration 2 Jackson
• MGI ID: MGI:1857648
• Synonyms: nmd^2J
• Gene: Ighmbp2 Location: Chr19:3309076-3333011 bp, - strand Genetic Position: Chr19, 3.03 cM
• Alliance: Ighmbp2^nmd-2J page

Mutation origin

• Strain of Origin: BKS.Cg-Dock7^m +/+ Lepr^db/J

Mutation description

• Allele Type: Spontaneous
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: 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). (J:51890)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	7 assay results
In Structures Affected by this Mutation:	13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 5 strains available Cell Lines: 0 lines available
• Carrying any Ighmbp2 Mutation: 46 strains or lines available

References

• Original: J:23584 Cook SA, et al., Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration. Mamm Genome. 1995 Mar;6(3):187-91
• All: 11 reference(s)