Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
KAT8 regulatory NSL complex subunit 1
Synonyms:
1700081L11Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Kansl1 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 Kansl1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity OMIM:610443
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder ORPHA:363958
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder 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
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Hyperactivity, Polymicrogyria, Lissencephaly, Abnormality of neuronal mi... OMIM:604317
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Attention deficit hyperactivity disorder, Pachygyria, Lissencephaly, Hyperactivity OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Histidinemia
Hyperactivity ORPHA:2157
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Microcephaly 29, Primary, Autosomal Recessive
Simplified gyral pattern, Hyperactivity OMIM:620047
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity OMIM:610443
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder ORPHA:363958

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kansl1

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 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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