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Gene: Atat1 MGI:1913869

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alpha tubulin acetyltransferase 1
Synonyms:
3110080J08Rik,  2610008K08Rik,  0610011P08Rik,  2610110G12Rik,  MEC-17

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Atat1 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 Atat1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... ORPHA:320391
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:618736
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:616602
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... ORPHA:91351
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Lateral v... ORPHA:79243
Lead Poisoning
Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Oligozoospermia, Depressio... ORPHA:330015
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:617751
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Ventriculomegaly OMIM:618291
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V... ORPHA:397715
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Distal Deletion 10Q
Lateral ventricle dilatation ORPHA:96148
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:616034
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Gapo Syndrome
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia ORPHA:2067
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Dysphagia, Hypothyroidism, Testicular atrophy OMIM:222300
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Weaver Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Dysphagia OMIM:300322
Aicardi Syndrome
Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat... OMIM:304050
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation ORPHA:177907
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:615873
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation OMIM:300868
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Tetrasomy 9P
Absent gallbladder, Hyperactivity, Cryptorchidism, Oligozoospermia, Inappropriate behavior, Lisse... ORPHA:3310
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio... OMIM:210710
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia... ORPHA:228123
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul... ORPHA:500150
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:607872
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Agenesis of corpus callosum OMIM:614866
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261537
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261552
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:618820
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Smith-Lemli-Opitz Syndrome
Colpocephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:270400
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology ORPHA:353277
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170

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 Atat1

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 Atat1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ATP-citrate lyase promotes axonal transport across species. Nature communications (October 2021) Atat1tm1(KOMP)Vlcg PMC8497606
Dispensability of Tubulin Acetylation for 15-protofilament Microtubule Formation in the Mammalian Cochlea. Cell structure and function (February 2021) Atat1tm1(KOMP)Vlcg PMC10511047
ATAT1 regulates forebrain development and stress-induced tubulin hyperacetylation. Cellular and molecular life sciences : CMLS (April 2019) Atat1tm1(KOMP)Vlcg 30953095
α-Tubulin Acetylation Restricts Axon Overbranching by Dampening Microtubule Plus-End Dynamics in Neurons. Cerebral cortex (New York, N.Y. : 1991) (September 2018) Atat1tm1(KOMP)Vlcg 28968698
Α-tubulin K40 acetylation is required for contact inhibition of proliferation and cell-substrate adhesion. Molecular biology of the cell (April 2014) Atat1tm1(KOMP)Vlcg PMC4055265
Mice lacking α-tubulin acetyltransferase 1 are viable but display α-tubulin acetylation deficiency and dentate gyrus distortion. The Journal of biological chemistry (May 2013) Atat1tm1(KOMP)Vlcg PMC3711300

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atat1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Atat1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atat1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Atat1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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