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

Pmp22^Tr-J
Spontaneous Allele Detail

Nomenclature

Symbol:	Pmp22^Tr-J
Name:	peripheral myelin protein 22; trembler Jackson
MGI ID:	MGI:1856217
Synonyms:	trembler-j, TrJ
Gene:	Pmp22 Location: Chr11:62942484-62973049 bp, + strand Genetic Position: Chr11, 34.45 cM

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	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)
Inheritance:	Semidominant

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:	6 strains or lines available

Expression

In Mice Carrying this Mutation:

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	ht2	ht3	ot4
behavior/neurological		√		√	√
abnormal motor coordination/ balance		√
impaired coordination				√
abnormal gait				√	√
tremors					√
		hm1	ht2	ht3	ot4
cellular			√
abnormal cell physiology			√
abnormal autophagy			√
		hm1	ht2	ht3	ot4
lethality/postnatal		√
postnatal lethality		√
		hm1	ht2	ht3	ot4
life span/aging		√
decreased survivor rate		√
		hm1	ht2	ht3	ot4
muscle				√
muscle degeneration				√
		hm1	ht2	ht3	ot4
nervous system			√	√	√
abnormal myelination			√	√	√
abnormal action potential			√
abnormal Schwann cell morphology				√	√
abnormal axon morphology				√
abnormal dorsal root ganglion morphology				√

		hm1	ht2	ht3	ot4
Disease Models			√	√
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A			√	√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

involves: C57BL/6

Pmp22^Tr-J/Pmp22⁺

B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J

Pmp22^Tr-J/Pmp22⁺

involves: C57BL/6

involves: C57BL/6

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
			Allelic Composition	Genetic Background
Models with phenotypic similarity to human diseases associated with human PMP22.
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A OMIM ID: 118220		ht2	Pmp22^Tr-J/Pmp22⁺	B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J	J:101812, J:3394
		ht3	Pmp22^Tr-J/Pmp22⁺	involves: C57BL/6	J:3394, J:98231

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:	21 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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