Pmp22<Tr-J> Spontaneous Allele Detail MGI Mouse (MGI:1856217)

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Pmp22^Tr-J
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Pmp22^Tr-J
Name:	peripheral myelin protein 22; trembler Jackson
MGI ID:	MGI:1856217
Synonyms:	trembler-j, Tr^J, TrJ
Gene:	Pmp22 Location: Chr11:63019808-63050373 bp, + strand Genetic Position: Chr11, 38.99 cM
Alliance:	Pmp22^Tr-J page

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: Sequence analysis of cDNA showed a T-to-C transition at coding nucleotide 47 resulting in the substitution of a leucine residue by a proline residue at position 16 (p.L16P). (J:1058, J:3394)
Inheritance:		Semidominant

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Pmp22 Mutation:	33 strains or lines available

References

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
All:	36 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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