Gene Summary

Name:
arylalkylamine N-acetyltransferase
Synonyms:
Nat-2,  Nat4,  SNAT

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
hyperactivity Aanatem1(IMPC)KMPC HOM Late adult 6.82×10-06
increased mean platelet volume Aanatem1(IMPC)KMPC HOM   Early adult 9.20×10-05
abnormal coat/hair pigmentation Aanatem1(IMPC)KMPC HOM   Late adult 1.55×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Aanat 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 Aanat by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
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
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Premature graying of hair OMIM:190200
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Fair hair OMIM:618808
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Thrombocythemia 3
Thrombocytosis OMIM:614521
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Accumulation of melanosomes... OMIM:256710
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Alazami-Yuan Syndrome
Low anterior hairline, Highly arched eyebrow, Hirsutism, Long eyelashes, Synophrys, Thick eyebrow... OMIM:617126
Waardenburg Syndrome, Type 4A
White eyebrow, Heterochromia iridis, Premature graying of hair, Ataxia, White eyelashes, White fo... OMIM:277580
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Urocanase Deficiency
Blue irides, Ataxia, Fair hair OMIM:276880
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Hyperactivity ORPHA:85288
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
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
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Ataxia, Generalized hyperpigmentation, Hypop... ORPHA:33445
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hyperactivity, Hypopigmentation of the s... ORPHA:411515
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, Ataxia, White eyelashes... ORPHA:2884
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Coffin-Siris Syndrome 8
Sparse scalp hair, Thick eyebrow, Long eyelashes, Hyperactivity OMIM:618362
Xq25 Duplication Syndrome
Highly arched eyebrow, Thick eyebrow, Sparse eyebrow, Hyperactivity OMIM:300979
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Ataxia, Partial albinism ORPHA:79476
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Phenylketonuria
Fair hair, Hyperactivity, Generalized hypopigmentation, Blue irides, Attention deficit hyperactiv... OMIM:261600
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Hyperactivity ORPHA:521258
Mental Retardation, Autosomal Recessive 39
Synophrys, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Hyperactivity OMIM:300434
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
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
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617773
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosplenomegaly, Schistoc... OMIM:607330
Gand Syndrome
Sparse hair, Hyperactivity OMIM:615074
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Spastic gait, Waddling gait, Multiple lentigines ORPHA:101003
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly ORPHA:84064
Rubinstein-Taybi Syndrome 2
Hirsutism, Long eyelashes, Hyperactivity OMIM:613684
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides, Hyperactivity OMIM:614613
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Hyperactivity OMIM:618342
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Gait disturbance, Ataxia, Multiple cafe-au-l... ORPHA:100
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Broad-based gait, Hyperactivity ORPHA:457260
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Mental Retardation, Autosomal Recessive 13
Synophrys, Hyperactivity OMIM:613192
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Coffin-Siris Syndrome 7
Sparse scalp hair, Thick eyebrow, Hypoplastic fifth toenail, Hyperactivity OMIM:618027
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys, Hyperactivity OMIM:252900
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Attention deficit hyperactivity disorder ORPHA:79254
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Thick eyebrow, Broad-based gait, Hyperactivity OMIM:617865
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Blue irides, Hyperactivity OMIM:615516
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Synophrys, Hyperactivity OMIM:615824
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Gait disturbance, Hyperpigmentation o... ORPHA:3214
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Graves Disease, Susceptibility To, 1
Onycholysis, Hyperactivity OMIM:275000
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Limb dystonia, Hyperactivity, Generalized hirsutism ORPHA:363400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Gait imbalance, Broad-based gait, Hypopigmentati... ORPHA:98795
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Intellectual Developmental Disorder, X-Linked 21
Synophrys, Hyperactivity OMIM:300143
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys, Hyperactivity OMIM:252920
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Gait imbalance, Ataxia, Hypopigmentation of the ... ORPHA:411511
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Synophrys, Ataxia, Hyperactivity, Generalized hirsutism ORPHA:228402
Histidinemia
Hyperactivity ORPHA:2157
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Hyperactiv... ORPHA:98794
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
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
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
Myoclonic-Astatic Epilepsy
Ataxia, Frontal balding, Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
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
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Synophrys, Thick eyebrow, Hyperactivity OMIM:252940
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys, Hyperactivity OMIM:252930
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Ataxia, Sparse scalp hair, Gener... ORPHA:3322
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Cafe-au-lait spot, Hyperactivity, Low posterior hairline, Attention defici... ORPHA:73272
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
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
Angelman Syndrome
Progressive gait ataxia, Fair hair, Blue irides, Hyperactivity, Hypopigmentation of the skin, Bro... OMIM:105830
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Hyperactivity OMIM:618089
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Gait disturbance, Cafe-au-lait spot, Hypopigmented skin patches, Hyperactivity ORPHA:457485
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Fragile X Syndrome
Hyperactivity OMIM:300624
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Gait disturban... OMIM:214500
Gomez-Lopez-Hernandez Syndrome
Alopecia, Ataxia, Hyperactivity OMIM:601853
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Hyperactivity OMIM:600430
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Synophrys, Hyperactivity ORPHA:391307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Abnormality of the nail, Abnor... ORPHA:238468
Glass Syndrome
Nail dysplasia, Sparse hair, Broad-based gait, Hyperactivity OMIM:612313
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Hyperactivity ORPHA:166108
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Insensitivity To Pain, Congenital, With Anhidrosis
Nail dysplasia, Sparse scalp hair, Nail dystrophy, Hyperactivity OMIM:256800
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypoplastic nipples, Hypermelanotic macule, Cafe-au-lait spot, Hyperactivity OMIM:618505
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse hair, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair, Cafe-au-lait spot,... OMIM:607721
Bone Marrow Failure Syndrome 3
Abnormality of skin pigmentation, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Hyp... OMIM:617052
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism, Ataxia, Athetosis ORPHA:2719
Angelman Syndrome
Inability to walk, Iris hypopigmentation, Ataxia, Fair hair, Hyperactivity, Hypopigmentation of t... ORPHA:72
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
X-Linked Intellectual Disability, Cabezas Type
Synophrys, Abnormal hair pattern, Broad-based gait, Hyperactivity ORPHA:85293
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation ORPHA:90354
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Pigmentary retinopathy, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia... OMIM:234200
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Frontal upsweep of... OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Lethargy, Hypopigmentation of the skin ORPHA:398079
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... ORPHA:79430
Ch├ędiak-Higashi Syndrome
Inability to walk, Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation o... ORPHA:167
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Hypopigmentation of the skin OMIM:242840
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Lethargy, Hypopigmentation of the skin ORPHA:398069
Coffin-Siris Syndrome
Low anterior hairline, Small nail, Prominent eyelashes, Hypoplastic fifth fingernail, Hirsutism, ... ORPHA:1465
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hy... ORPHA:177907
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Attention deficit hyperactivity disorder ORPHA:739
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Coarse hair, Hypopigmentation of hair, Dry hair ORPHA:1974
Wiedemann-Steiner Syndrome
Congenital, generalized hypertrichosis, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity, ... ORPHA:319182
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Red hair, Blue irides, Hyperactivity ORPHA:280651
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398073
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Oculoectodermal Syndrome
Supernumerary nipple, Hyperpigmentation of the skin, Hyperactivity OMIM:600268
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Hyperactivity ORPHA:457284
Carney Complex
Red hair, Hirsutism, Cafe-au-lait spot, Profuse pigmented skin lesions, Hypermelanotic macule, Mu... ORPHA:1359
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Attention deficit hyperactivity disorder ORPHA:818
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... OMIM:219800

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 Aanat

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 Aanat.

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

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MGI Allele Allele Type Produced
Aanattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Aanattm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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