Npc2 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Npc2
NPC intracellular cholesterol transporter 2
MGI:1915213

32 phenotypes from 3 alleles in 7 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Npc2^{Gt(LST105)Byg}/Npc2^{Gt(LST105)Byg} B6.129P2-Npc2^{Gt(LST105)Byg}	abnormal immune system morphology	J:125609
	abnormal immune system physiology	J:125609
Npc2^{tm1e.1(EUCOMM)Wtsi}/Npc2⁺ C57BL/6N-Npc2^{tm1e.1(EUCOMM)Wtsi}/Tcp	increased circulating potassium level	J:211773
	small adrenal glands	J:211773
Npc2^tm1Plob/Npc2^tm1Plob C.129S1-Npc2^tm1Plob	abnormal lysosome morphology	J:125609
	abnormal NK cell physiology	J:125609
	abnormal T cell physiology	J:125609
	decreased NK cell number	J:125609
Npc2^tm1Plob/Npc2^tm1Plob involves: 129S1/Sv	premature death	J:89617
Npc2^tm1Plob/Npc2^tm1Plob involves: 129S1/Sv * BALB/c	abnormal alveolar macrophage morphology	J:204311
	abnormal lipid level	J:204311
	abnormal lung morphology	J:204311
	abnormal lung vasculature morphology	J:204311
	abnormal phospholipid level	J:204311
	abnormal surfactant composition	J:204311
	abnormal type II pneumocyte morphology	J:204311
	decreased body weight	J:204311
	increased alveolar lamellar body number	J:204311
	increased lung cholesterol level	J:204311
	increased lung weight	J:204311
	lipidosis	J:204311
	pulmonary alveolar proteinosis	J:204311
	small alveolar lamellar bodies	J:204311
	thick pulmonary interalveolar septum	J:204311
Npc2^tm1Plob/Npc2^tm1Plob involves: 129S1/Sv * BALB/c * C57BL/6	abnormal lipid homeostasis	J:89617
	abnormal locomotor behavior	J:89617
	ataxia	J:89617
	decreased Purkinje cell number	J:89617
	increased liver cholesterol level	J:89617
	premature death	J:89617
	Purkinje cell degeneration	J:89617
	tremors	J:89617
	weight loss	J:89617
Npc2^tm1Plob/Npc2^tm1Plob involves: 129S1/Sv * C57BL/6	decreased NK cell number	J:125609
Npc2^tm1Plob/Npc2^tm1Plob involves: 129S1/Sv * C57BL/6	premature death	J:89617

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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