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| Nomenclature |
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Symbol:
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Ighmbp2nmd-2J
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Name:
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immunoglobulin mu binding protein 2;
neuromuscular degeneration 2 Jackson
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MGI ID: |
MGI:1857648 |
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Synonyms: |
nmd2J |
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Gene:
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Ighmbp2
Location:
Chr19:3260924-3283017 bp, - strand
Genetic Position: Chr19,
3.03 cM
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Mutation
origin |
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Strain of Origin:
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BKS.Cg-Dock7m +/+ Leprdb/J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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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. (J:51890)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
