Bloc1s6 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Bloc1s6
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
MGI:1927580

49 phenotypes from 2 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Bloc1s6^em1(IMPC)Mbp/Bloc1s6^em1(IMPC)Mbp C57BL/6N-Bloc1s6^em1(IMPC)Mbp/MbpMmucd	abnormal coat/hair pigmentation	J:211773
	abnormal eye morphology	J:211773
	abnormal heart morphology	J:211773
	abnormal lymph node morphology	J:211773
	abnormal skin morphology	J:211773
	abnormal spleen morphology	J:211773
	enlarged heart	J:211773
	enlarged spleen	J:211773
	hyperactivity	J:211773
	increased circulating serum albumin level	J:211773
Bloc1s6^pa/Bloc1s6^pa B6.Cg-Bloc1s6^pa/J	abnormal blood homeostasis	J:4098
	abnormal kidney physiology	J:6219
	abnormal linear vestibular evoked potential	J:89392
	abnormal lung interstitium morphology	J:4098
	abnormal lung morphology	J:4098, J:53228
	abnormal lung volume	J:4098
	abnormal lysosome physiology	J:6801
	abnormal melanosome morphology	J:80751
	abnormal NK cell physiology	J:6801
	abnormal otolith morphology	J:5215, J:89392
	abnormal platelet activation	J:7327, J:221384
	abnormal platelet physiology	J:221384
	abnormal pulmonary alveolus epithelium morphology	J:4098
	abnormal pulmonary alveolus morphology	J:4098, J:88021
	abnormal respiratory mechanics	J:88021
	abnormal respiratory system physiology	J:4098
	abnormal urine enzyme level	J:6219
	ataxia	J:5215
	decreased platelet ADP level	J:7327
	decreased platelet aggregation	J:221384
	decreased platelet ATP level	J:7327
	decreased platelet dense granule number	J:7327
	decreased platelet serotonin level	J:7327
	diluted coat color	J:99881
	emphysema	J:4098
	head tilt	J:5215
	impaired balance	J:5215
	impaired swimming	J:5215, J:89392
	increased bleeding time	J:7327
	increased body weight	J:4098
	normal integument phenotype	J:68448
	lung inflammation	J:4098
	ocular albinism	J:141035
	premature death	J:53228
	pulmonary edema	J:4098
	tonic seizures	J:5215
Bloc1s6^pa/Bloc1s6^pa involves: wild-derived	decreased eye pigmentation	J:13138
Bloc1s6^pa/Bloc1s6^pa involves: wild-derived	diluted coat color	J:13138
Bloc1s6^pa/Bloc1s6^pa Not Specified	normal cellular phenotype	J:238623
Bloc1s6^pa/Bloc1s6^pa Not Specified	maternal effect	J:5680

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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