Gene Summary

Name:
kynurenine aminotransferase 1
Synonyms:
cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase),  2010009K05Rik,  KATI,  Kat1,  Ccbl1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin coloration Kyat1tm1b(KOMP)Wtsi HET Early adult 2.09×10-06
hyperactivity Kyat1tm1b(KOMP)Wtsi HET   Early adult 1.31×10-06
preweaning lethality, incomplete penetrance Kyat1tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Forepaw

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Kyat1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kyat1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hypopigmentation of the skin, Ataxia, Hyperactivity ORPHA:411515
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Broad-based gait, Hyperactivity ORPHA:457260
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Phenylketonuria
Generalized hypopigmentation, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Gand Syndrome
Hyperactivity OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Histidinemia
Hyperactivity ORPHA:2157
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Cafe-au-lait spot, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Hypopigmented skin patches, Cafe-au-lait spot, Hyperactivity ORPHA:457485
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, Hypopigmentation of the skin, Broad-based gait ORPHA:98794
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Angelman Syndrome
Progressive gait ataxia, Hypopigmentation of the skin, Broad-based gait, Hyperactivity OMIM:105830
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypermelanotic macule, Cafe-au-lait spot, Hyperactivity OMIM:618505
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperpigmentation of t... OMIM:234200
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperpigmentation of the skin, Cafe-au-lait spot, Hyperactivity, Multiple lentigines, Attention d... OMIM:607721
Nijmegen Breakage Syndrome
Progressive vitiligo, Cafe-au-lait spot, Hyperactivity OMIM:251260
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Oculoectodermal Syndrome
Hyperpigmentation of the skin, Hyperactivity OMIM:600268
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800

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 Kyat1

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 Kyat1.

No publications found that use IMPC mice or data for Kyat1.

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MGI Allele Allele Type Produced
Kyat1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kyat1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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