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| Nomenclature |
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Symbol:
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Htra2mnd2
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Name:
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HtrA serine peptidase 2;
motor neuron degeneration 2
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MGI ID: |
MGI:1856960 |
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Synonyms: |
mnd2 |
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Gene:
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Htra2
Location:
Chr6:83051266-83055273 bp, - strand
Genetic Position: Chr6,
35.94 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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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: The mutation in the mnd2 mouse has been identified as an A to T transversion that predicts a Ser276Cys change in the protease domain of the protein. This mutation has no effect on mRNA or protein concentrations. However, enzyme assays reveal that the serine protease activity of this protein is lost. (J:85268)
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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:12780
Jones JM et al.,
"mnd2: a new mouse model of inherited motor neuron disease."
Genomics 1993 Jun;16(3):669-77
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All: |
12 reference(s)
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Analysis Tools
