Gene: Snx14 MGI:2155664
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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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
decreased prepulse inhibition | Snx14em1(IMPC)H | HET | Early adult | 8.30×10-11 | ||
increased exploration in new environment | Snx14em1(IMPC)H | HET | Early adult | 4.07×10-05 | ||
preweaning lethality, complete penetrance | Snx14em1(IMPC)H | HOM | Early adult | 0.00 | ||
increased circulating amylase level | Snx14em1(IMPC)H | HET | Early adult | 8.77×10-06 | ||
increased grip strength | Snx14em1(IMPC)H | HET | Early adult | 6.08×10-07 | ||
increased mean platelet volume | Snx14em1(IMPC)H | HET | Early adult | 1.08×10-05 |
Human diseases caused by Snx14 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.
The table below shows human diseases associated to Snx14 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Spinocerebellar Ataxia, Autosomal Recessive 20 | Splenomegaly | OMIM:616354 | |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome | Hepatosplenomegaly | ORPHA:397709 |
The table below shows human diseases predicted to be associated to Snx14 by phenotypic similarity.
IMPC related publications
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 Snx14.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. | Scientific reports (August 2020) | Snx14em1(IMPC)H | PMC7427099 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Snx14em1(IMPC)H | Exon Deletion | Mice |
Snx14tm1aNarl | KO first allele (reporter-tagged insertion with conditional potential) | ES Cells |
Snx14tm380484(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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