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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: Chr19:3259076-3283010 bp, - strand  Genetic Position: Chr19, 3.03 cM
Strain of Origin:  BKS.Cg-Dock7m +/+ Leprdb/J
Allele Type:    Spontaneous
Mutations:    Intragenic deletion, 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. 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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 7 assay results
In Structures Affected by this Mutation: 17 anatomical structures
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:  8 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:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory