Bloc1s6 | biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

GeneMGI:1927580Synonyms: BLOC-1, BLOC-1 subunit, +1 more

Physiological systems

20 / 24 physiological systems tested

6 Significantly impacted by the knock-out

 Homeostasis/metabolism Pigmentation Immune system Integument Vision/eye Behavior/neurological

14 No significant impact

4 Not tested

Gene metrics:7Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal coat/hair pigmentation3 supporting datasetsBloc1s6em1(IMPC)MbphomozygoteEarly adult2.32x10-15 
abnormal eye morphology2 supporting datasetsBloc1s6em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal skin morphology2 supporting datasetsBloc1s6em1(IMPC)MbphomozygoteEarly adultN/A * 
hyperactivity2 supporting datasetsBloc1s6em1(IMPC)MbphomozygoteEarly adult5.7x10-5 
increased circulating serum albumin level1 supporting datasetBloc1s6em1(IMPC)MbphomozygoteEarly adult1.47x10-5 
abnormal lymph node morphology1 supporting datasetBloc1s6em1(IMPC)MbphomozygoteEarly adultN/A * 
improved glucose tolerance1 supporting datasetBloc1s6em1(IMPC)MbphomozygoteEarly adult8.7x10-5 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

Human diseases caused by Bloc1s6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.






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Histopathology

IMPC related publications

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Bloc1s6em1(IMPC)MbpExon Deletionmouse
Bloc1s6tm271492(L1L2_6XOspnEnh_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector
Bloc1s6tm271492(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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