C57BL/6N-Npc1^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:04739
International strain name	C57BL/6N-Npc1^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0534_4_G05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Npc1^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Npc1
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Provider	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0534_4_G05. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6NTac
Breeding at archiving centre	Chimeras were mated to C57BL/6N Tac USA, and maintained on this background thereafter.

Orphanet associated rare diseases, based on orthologous gene matching

Niemann-Pick disease type C, late infantile neurologic onset / Orphanet_216978
Niemann-Pick disease type C, adult neurologic onset / Orphanet_216986
Niemann-Pick disease type C, severe early infantile neurologic onset / Orphanet_216975
Niemann-Pick disease type C, juvenile neurologic onset / Orphanet_216981
Niemann-Pick disease type C, severe perinatal form / Orphanet_216972

IMPC phenotypes (allele matching)

increased monocyte cell number / IMPC
increased startle reflex / IMPC

IMPC phenotypes (gene matching)

increased monocyte cell number / IMPC
increased startle reflex / IMPC
decreased exploration in new environment / IMPC
preweaning lethality, incomplete penetrance / IMPC

MGI phenotypes (gene matching)

impaired fertilization / MGI
enlarged liver / MGI
pale liver / MGI
abnormal hepatocyte morphology / MGI
enlarged spleen / MGI
tremors / MGI
decreased brain size / MGI
decreased corpus callosum size / MGI
abnormal cerebral cortex morphology / MGI
abnormal olfactory bulb morphology / MGI
abnormal pons morphology / MGI
small cerebellum / MGI
abnormal cerebellum anterior vermis morphology / MGI
abnormal cerebellum posterior vermis morphology / MGI
Purkinje cell degeneration / MGI
abnormal Purkinje cell morphology / MGI
decreased Purkinje cell number / MGI
abnormal myelination / MGI
demyelination / MGI
abnormal CNS glial cell morphology / MGI
abnormal trigeminal ganglion morphology / MGI
abnormal female reproductive system morphology / MGI
abnormal ovary morphology / MGI
small ovary / MGI
abnormal ovarian follicle morphology / MGI
absent mature ovarian follicles / MGI
absent corpus luteum / MGI
seminiferous tubule degeneration / MGI
arrest of spermatogenesis / MGI
abnormal lung morphology / MGI
thick pulmonary interalveolar septum / MGI
decreased body weight / MGI
weight loss / MGI
decreased body size / MGI
abnormal cornea morphology / MGI
ataxia / MGI
hypoactivity / MGI
impaired coordination / MGI
abnormal gait / MGI
abnormal object recognition memory / MGI
increased startle reflex / MGI
abnormal lipid level / MGI
increased circulating follicle stimulating hormone level / MGI
increased circulating luteinizing hormone level / MGI
nasal inflammation / MGI
reduced fertility / MGI
infertility / MGI
male infertility / MGI
female infertility / MGI
abnormal motor capabilities/coordination/movement / MGI
premature death / MGI
abnormal lipid homeostasis / MGI
abnormal respiratory system physiology / MGI
decreased brain weight / MGI
neurodegeneration / MGI
abnormal type II pneumocyte morphology / MGI
abnormal macrophage morphology / MGI
hepatic steatosis / MGI
oligozoospermia / MGI
abnormal ovarian secretion / MGI
abnormal neuron morphology / MGI
increased liver weight / MGI
no phenotypic analysis / MGI
abnormal lysosome physiology / MGI
abnormal cellular cholesterol metabolism / MGI
astrocytosis / MGI
nervous system phenotype / MGI
abnormal microglial cell physiology / MGI
abnormal cholesterol level / MGI
increased cholesterol level / MGI
abnormal lung vasculature morphology / MGI
abnormal adenohypophysis morphology / MGI
impaired acrosome reaction / MGI
abnormal phospholipid level / MGI
increased macrophage derived foam cell number / MGI
abnormal surfactant composition / MGI
decreased ovary weight / MGI
uterus atrophy / MGI
decreased circulating prolactin level / MGI
decreased prolactin level / MGI
increased circulating cholesterol level / MGI
abnormal olfactory nerve morphology / MGI
abnormal cholesterol homeostasis / MGI
abnormal enzyme/coenzyme level / MGI
increased macrophage cell number / MGI
abnormal olfactory system morphology / MGI
corneal deposits / MGI
teratozoospermia / MGI
increased lung weight / MGI
abnormal olfactory sensory neuron morphology / MGI
abnormal alveolar macrophage morphology / MGI
thin myometrium / MGI
thin endometrium / MGI
abnormal hippocampus CA3 region morphology / MGI
decreased lactotroph cell number / MGI
adenohypophysis hypoplasia / MGI
impaired olfaction / MGI
absent sperm flagellum / MGI
abnormal neocortex morphology / MGI
lipidosis / MGI
abnormal Purkinje cell dendrite morphology / MGI
abnormal olfactory epithelium morphology / MGI
abnormal granulosa cell morphology / MGI
anovulation / MGI
abnormal astrocyte physiology / MGI
microgliosis / MGI
absent estrous cycle / MGI
thin uterus / MGI
decreased endometrial gland number / MGI
decreased prepulse inhibition / MGI
abnormal sperm head morphology / MGI
absent sperm head / MGI
decreased abdominal fat pad weight / MGI
endometrium atrophy / MGI
abnormal secondary ovarian follicle morphology / MGI
abnormal plasma membrane sphingolipid content / MGI
increased plasma membrane sphingolipid content / MGI
sphingomyelinosis / MGI
abnormal sphingomyelin level / MGI
foam cell reticulosis / MGI
decreased liver cholesterol level / MGI
increased liver cholesterol level / MGI
axonal spheroids / MGI
decreased grip strength / MGI
decreased brain cholesterol level / MGI
increased brain cholesterol level / MGI
abnormal microglial cell activation / MGI
abnormal alveolar lamellar body morphology / MGI
enlarged alveolar lamellar bodies / MGI
lethality, incomplete penetrance / MGI
pulmonary alveolar proteinosis / MGI
decreased food intake / MGI
abnormal sphingolipid level / MGI
abnormal ganglioside level / MGI
abnormal ceramide level / MGI
abnormal primary cilium morphology / MGI
increased microglial cell activation / MGI

C57BL/6N-Npc1^{tm1a(EUCOMM)Hmgu}/H

Information from provider

Information from EMMA

Disease and phenotype information

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains

C57BL/6N-Npc1tm1a(EUCOMM)Hmgu/H

Information from provider

Information from EMMA

Disease and phenotype information

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains

C57BL/6N-Npc1^{tm1a(EUCOMM)Hmgu}/H