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

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 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
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
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
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Deleted in azoospermia
Azoospermia OMIM:400003
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
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
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, H... ORPHA:8
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
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
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amen... ORPHA:91351
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618736
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Low frustration tolerance, Aggressive behavior, Primary gonadal i... ORPHA:99329
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Absence of secondary sex characteristics, Non-obstructive azoosper... ORPHA:432
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Lead Poisoning
Depression, Decreased male libido, Abnormality of the menstrual cycle, Infertility, Anorexia, Dec... ORPHA:330015
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Agenesis... ORPHA:79243
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:617751
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Lateral ventricle dilatation OMIM:618291
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia OMIM:160900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:612863
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation ORPHA:572798
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatation ORPHA:300570
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation ORPHA:544488
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Dandy-Walk... ORPHA:397715
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Distal Deletion 10Q
Lateral ventricle dilatation ORPHA:96148
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:616034
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:619229
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:464738
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Weaver Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:277590
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrocephalus, Colpocephaly, Dilated third ventricle, Lateral ventricle dilatation OMIM:620371
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, S... OMIM:157640
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Diabetes insipidus, Dysphagia, Diabetes mellitus OMIM:222300
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Partial agenesis of t... OMIM:304050
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation ORPHA:177907
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:615873
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior, Dysphagia OMIM:300322
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... OMIM:219090
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation OMIM:300868
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Tetrasomy 9P
Inappropriate behavior, Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Hyperacti... ORPHA:3310
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Partial a... OMIM:210710
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... ORPHA:228123
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:620113
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dil... ORPHA:500150
Spondyloenchondrodysplasia
Ventriculomegaly, Abnormal lateral ventricle morphology ORPHA:1855
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:617260
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:607872
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Steinert Myotonic Dystrophy
Male hypogonadism, Depression, Cholelithiasis, Oral-pharyngeal dysphagia, Decreased response to g... ORPHA:273
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation OMIM:619534
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Agenesis of corpus callosum OMIM:614866
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly OMIM:618460
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
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
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Puberty and gonadal d... ORPHA:64
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
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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