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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Bloc1s2
biogenesis of lysosomal organelles complex-1, subunit 2
MGI:1920939
33 phenotypes from 2 alleles in 2 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Bloc1s2tm1.1(KOMP)Mbp/Bloc1s2+
B6N(Cg)-Bloc1s2tm1.1(KOMP)Mbp/J 		decreased circulating free fatty acids level J:211773
increased circulating alanine transaminase level J:211773
thrombocytopenia J:211773
Bloc1s2tm1.1(KOMP)Mbp/Bloc1s2tm1.1(KOMP)Mbp
B6N(Cg)-Bloc1s2tm1.1(KOMP)Mbp/J 		abnormal craniofacial morphology J:211773
abnormal limb bud morphology J:211773
abnormal pericardium morphology J:211773
abnormal placenta size J:211773
edema J:211773
hemorrhage J:211773
pale liver J:211773
preweaning lethality, complete penetrance J:211773
Bloc1s2tm1Wli/Bloc1s2tm1Wli
involves: 129 * C57BL/6J 		abnormal cerebral cortex morphology J:238623
abnormal cortical intermediate zone morphology J:238623
abnormal craniofacial morphology J:238623
abnormal hematopoietic stem cell morphology J:238623
abnormal lysosome morphology J:238623
abnormal lysosome physiology J:238623
abnormal stratification in cerebral cortex J:238623
abnormal vesicle-mediated transport J:238623
absent eye pigmentation J:238623
decreased brain size J:238623
decreased granulocyte monocyte progenitor cell number J:238623
enlarged lateral ventricles J:238623
impaired hematopoiesis J:238623
impaired neuron differentiation J:238623
increased hematopoietic stem cell number J:238623
increased hematopoietic stem cell proliferation J:238623
increased neuronal precursor proliferation J:238623
increased radial glial cell number J:238623
loss of cortex neurons J:238623
neonatal lethality, complete penetrance J:238623
prenatal lethality, incomplete penetrance J:238623
thin cerebral cortex J:238623
thin cortical plate J:238623
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory