C3HeB/FeJ-Pmp22^Mhdatre002/Ieg

Status	Available to order
EMMA ID	EM:02438
Citation information	RRID:IMSR_EM:02438 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3HeB/FeJ-Pmp22^Mhdatre002/Ieg
Alternative name	TRE002
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Pmp22^Mhdatre002
Gene/Transgene symbol	Pmp22

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	Mutation in exon 4 of Pmp22 gene, nucleotide 206 T->A, amino acid 69 Met->Lys.
Phenotypic information	Trembling behaviour, ataxia, alkaline phosphatase high.
Breeding history	More than 2 times backcrossed to C3HeB/FeJ.
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C3H males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Roussy-Lévy syndrome / Orphanet_3115
Dejerine-Sottas syndrome / Orphanet_64748
Charcot-Marie-Tooth disease type 1E / Orphanet_90658
Hereditary neuropathy with liability to pressure palsies / Orphanet_640
Charcot-Marie-Tooth disease type 1A / Orphanet_101081

MGI phenotypes (gene matching)

tremors / MGI
muscle weakness / MGI
muscle degeneration / MGI
hindlimb paralysis / MGI
forelimb paralysis / MGI
abnormal myelination / MGI
demyelination / MGI
convulsive seizures / MGI
abnormal dorsal root ganglion morphology / MGI
abnormal Schwann cell morphology / MGI
decreased body size / MGI
ataxia / MGI
hypoactivity / MGI
impaired coordination / MGI
abnormal gait / MGI
limb grasping / MGI
abnormal motor coordination/balance / MGI
impaired righting response / MGI
postnatal growth retardation / MGI
reduced male fertility / MGI
deafness / MGI
abnormal motor capabilities/coordination/movement / MGI
postnatal lethality / MGI
abnormal sexual interaction / MGI
abnormal neuron morphology / MGI
increased circulating alkaline phosphatase level / MGI
abnormal myelin sheath morphology / MGI
limbs/digits/tail phenotype / MGI
vision/eye phenotype / MGI
abnormal action potential / MGI
abnormal axon morphology / MGI
axon degeneration / MGI
abnormal cell physiology / MGI
impaired hearing / MGI
abnormal autophagy / MGI
decreased survivor rate / MGI
decreased nerve conduction velocity / MGI
decreased grip strength / MGI
mortality/aging / MGI
lethality at weaning, complete penetrance / MGI
abnormal Schwann cell physiology / MGI
increased Schwann cell proliferation / MGI
increased or absent threshold for auditory brainstem response / MGI
spasticity / MGI

Literature references

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-Pmp22Mhdatre002/Ieg