Stock B6.C-Ndrg1<str>/H

FESA Number

4505

Strain Name

B6.C-Ndrg1<str>/H

Mutation Strain Type

Mutation Type Mutation Subtype Strain Type
IMSR - Spontaneous mutation IMSR - mutant strain

Attribution

Institution name Depositor / Originator Name
University College London Originator Retained
University College London Depositor Retained

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Ndrg1<str> MGI:5009138 Ndrg1 MGI:1341799 15

Phenotypic Description

Mice at first develop normally but around the age of 5-6 weeks develop a peripheral demyelinating neuropathy resulting in weakness of the hind limbs. This manifests as clasping hind legs when suspended by tail, marked tremor, inability to maintain normal posture. Signs progress rapidly at first, stabilise after 20 weeks.

Orphanet Disorders

OrphaNet ID Name Url
99 950 Charcot-Marie-Tooth disease type 4D http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99950

Publications

Displaying 1 - 3 of 3 Stock Publications
Pubmed ID Authors Title Journal
Chandler D The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D [v1; ref status: indexed, http://f1000r.es/8c] F1000Research (2 013) 2:
24687281 Heller BA Functionally distinct PI 3-kinase pathways regulate myelination in the peripheral nervous system. J Cell Biol (2 014) 204:1219-36
21303696 King RH Ndrg1 in development and maintenance of the myelin sheath. Neurobiol Dis (2 011) 42:368-80

Human Disease Links

OMIM ID:601455

Orphanet Categories

Rare neurologic disease

EMMA ID

EM:05263

Background Strain Name

C57BL/6J

Background Strain MGI ID

MGI:3028467

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