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Spontaneous Allele Detail
Symbol: Ighmbp2nmd-2J
Name: immunoglobulin mu binding protein 2; neuromuscular degeneration 2 Jackson
MGI ID: MGI:1857648
Synonyms: nmd2J
Gene: Ighmbp2  Location: Chr19:3260924-3283017 bp, - strand  Genetic Position: Chr19, 3.03 cM
Strain of Origin:  BKS.Cg-Dock7m +/+ Leprdb/J
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsAn 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. (J:51890)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
In Mice Carrying this Mutation: 7 assay results
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:  18 strains or lines available
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:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.08
The Jackson Laboratory