Family Identifier |
NMF164 |
Synonym(s) |
Npc1nmf164; C57BL/6J-Npc1spm-J/J; JR#4817 |
Synopsis |
The mutants exhibit an intense body tremor and unsteady gait. |
Gene Symbol |
Npc1 (View MGI Record) |
Gene |
Niemann Pick type C1 |
Allele Symbol |
Npc1nmf164 (View MGI Record) |
Allele |
neuroscience mutagenesis facility164 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The mutants exhibit an intense body tremor and unsteady gait, which can be observed by age 6-12 weeks (mean 6.8+/-4 weeks; n=19). Mutants of either sex have been produced, although they do not breed well and the colony needs to be maintained through ovarian transplants. Complementation tests with Npc1 (Niemann Pick type C1) showed that NMF164 represents an allele of Npc1, i.e. three heterozygous matings (Npc1spm/J x NMF164) resulted in 12 affected mice in a total of 28 progeny.
(View video)
|
Pathology Report |
Standard pathology work-up on two mutants (91 or 104 days of age) showed degeneration of the purkinje cell layer in the cerebellum. Lysosomal storage of lipid was also noted in macrophages present in the liver and spleen, as well as in the cytoplasm of neurons in the cerebral cortex. Apoptosis of the inner portion of the inner nuclear layer of the retina, and atrophic seminiferous tubules were also noted in one mutant. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 5 heterozygote matings produced 16 affected mice in a total of 64 progeny. |
Chromosome |
18 |
Molecular Interval |
see Npc1 |
Map
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STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
The mutant line has been recovered. (21) NMF164 have been requested by and distributed to 4 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |