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 Kansl1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Koolen-De Vries Syndrome | Gray matter heterotopia, Impulsivity, Hyperactivity | OMIM:610443 | |
17Q21.31 Microdeletion Syndrome | Attention deficit hyperactivity disorder, Overfriendliness | ORPHA:363958 | |
Koolen-De Vries Syndrome Due To A Point Mutation | Attention deficit hyperactivity disorder, Overfriendliness | ORPHA:363965 |
The table below shows human diseases predicted to be associated to Kansl1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:143465 | |
Attention Deficit-Hyperactivity Disorder 8 | Attention deficit hyperactivity disorder | OMIM:619957 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) | Hyperactivity | DECIPHER:19 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Intellectual Developmental Disorder, Autosomal Recessive 3 | Hyperactivity | OMIM:608443 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity | OMIM:300271 | |
Intellectual Developmental Disorder, Autosomal Dominant 33 | Hyperactivity | OMIM:616311 | |
Intellectual Developmental Disorder, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Microcephaly, Seizures, And Developmental Delay | Simplified gyral pattern, Hyperactivity | OMIM:613402 | |
Smith-Magenis syndrome | Hyperactivity | DECIPHER:8 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
Developmental And Epileptic Encephalopathy 43 | Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617113 | |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations | Hyperactivity, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patte... | OMIM:604317 | |
Hartnup Disorder | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:234500 | |
8p23.1 deletion syndrome | Hyperactivity | DECIPHER:39 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type | Hyperactivity | OMIM:301076 | |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617182 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
Microcephaly 29, Primary, Autosomal Recessive | Simplified gyral pattern, Hyperactivity | OMIM:620047 | |
Koolen-De Vries Syndrome | Gray matter heterotopia, Impulsivity, Hyperactivity | OMIM:610443 | |
Koolen-De Vries Syndrome Due To A Point Mutation | Attention deficit hyperactivity disorder, Overfriendliness | ORPHA:363965 | |
17Q21.31 Microdeletion Syndrome | Attention deficit hyperactivity disorder, Overfriendliness | ORPHA:363958 |
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 Kansl1.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. | PLoS genetics (July 2017) | Kansl1tm1b(EUCOMM)Hmgu | PMC5531616 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Kansl1tm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Kansl1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Kansl1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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