Cln8 | CLN8 transmembrane ER and ERGIC protein

GeneMGI:1349447Synonyms: ceroid-lipofuscinosis, neuronal 8, Tlcd6

Physiological systems

20 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Growth/size/body region Vision/eye Liver/biliary system Hematopoietic system Cardiovascular system Renal/urinary system

12 No significant impact

4 Not tested

Gene metrics:14Significant phenotypes
4Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased circulating phosphate level1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adult4.87x10-5 
enlarged spleen2 supporting datasetsCln8em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal retina morphology1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adult5.3x10-5 
abnormal vitreous body morphology1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adult5.99x10-5 
small liver1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal kidney morphology1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adultN/A * 
cataract1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adult6.35x10-5 
increased circulating serum albumin level1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adult1.47x10-5 
enlarged kidney1 supporting datasetCln8em1(IMPC)MbphomozygoteEarly adultN/A * 
increased heart weight2 supporting datasetsCln8em1(IMPC)MbphomozygoteEarly adult2.17x10-5 
* Does not have a P-value assigned because it was manually marked as significant.
Download data as:  
Rows per page: 










* This parameter was manually assessed for significance.
Download data as:  

lacZ Expression

Human diseases caused by Cln8 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.






Download data as:  

Histopathology

IMPC related publications

Loading...

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

Cln8em1(IMPC)MbpIntra-exon deletionmouse
Cln8tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Cln8tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Cln8tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter