The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
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.
The table below shows human diseases predicted to be associated to Bloc1s1 by phenotypic similarity.
|Oculocutaneous Albinism Type 4||
||Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ...||ORPHA:79435|
|Osteoporosis And Oculocutaneous Hypopigmentation Syndrome||
||Hypopigmentation of the skin, Ocular albinism||OMIM:601220|
||White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al...||ORPHA:55|
|Oculocutaneous Albinism Type 1A||
||Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri...||ORPHA:79431|
|Waardenburg Syndrome, Type 2E||
||White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White...||OMIM:611584|
||Abnormality of Krebs cycle metabolism||ORPHA:31|
|Mitochondrial Dna-Associated Leigh Syndrome||
||Abnormality of Krebs cycle metabolism||ORPHA:255210|
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bloc1s1.
There are 7 publications which use IMPC produced mice or data.
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|MGI Allele||Allele Type||Produced|
|Bloc1s1tm1e(EUCOMM)Hmgu||Targeted, non-conditional allele||ES Cells|
|Bloc1s1tm1a(EUCOMM)Hmgu||KO first allele (reporter-tagged insertion with conditional potential)||Mice, Targeting vectors, ES Cells|