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| Nomenclature |
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Symbol:
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Pmp22Tr-J
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Name:
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peripheral myelin protein 22;
trembler Jackson
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MGI ID: |
MGI:1856217 |
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Synonyms: |
trembler-j, TrJ, TrJ |
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Gene:
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Pmp22
Location:
Chr11:63128982-63159547 bp, + strand
Genetic Position: Chr11,
38.99 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: Sequence analysis of cDNA showed a T to C transition at nucleotide position 47 resulting in the substitution of a leucine residue by a proline residue. (J:1058, J:3394)
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Inheritance: | |
Semidominant |
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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:7222
Henry EW et al.,
"Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination."
J Neuropathol Exp Neurol 1983 Nov;42(6):688-706
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All: |
24 reference(s)
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