Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 associated to Cln5 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Adult Neuronal Ceroid Lipofuscinosis | Progressive visual loss, Visual loss | ORPHA:79262 | |
Infantile Neuronal Ceroid Lipofuscinosis | Progressive visual field defects, Blindness, Visual loss | ORPHA:79263 | |
Juvenile Neuronal Ceroid Lipofuscinosis | Blindness, Visual loss, Large central visual field defect | ORPHA:79264 | |
Ceroid Lipofuscinosis, Neuronal, 5 | Progressive visual loss | OMIM:256731 | |
Late Infantile Neuronal Ceroid Lipofuscinosis | Myopia, Reduced visual acuity, Blindness, Visual loss | ORPHA:168491 | |
Congenital Neuronal Ceroid Lipofuscinosis | ORPHA:168486 |
The table below shows human diseases predicted to be associated to Cln5 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Adult Neuronal Ceroid Lipofuscinosis | Progressive visual loss, Visual loss | ORPHA:79262 | |
Infantile Neuronal Ceroid Lipofuscinosis | Progressive visual field defects, Blindness, Visual loss | ORPHA:79263 | |
Juvenile Neuronal Ceroid Lipofuscinosis | Blindness, Visual loss, Large central visual field defect | ORPHA:79264 | |
Ceroid Lipofuscinosis, Neuronal, 5 | Progressive visual loss | OMIM:256731 | |
Late Infantile Neuronal Ceroid Lipofuscinosis | Myopia, Reduced visual acuity, Blindness, Visual loss | ORPHA:168491 | |
Congenital Neuronal Ceroid Lipofuscinosis | ORPHA:168486 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Cln5tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Cln5tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Cln5tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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