banner
Genes Phenotypes Help, News, Blog

Gene: Stam MGI:1329014

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
Synonyms:
STAM1

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 Stam 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 Stam by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
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 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
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
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
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Status epilepticus, Myoclonus... ORPHA:99802
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Generalized tonic seizure OMIM:614959
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dystonia OMIM:300857
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
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
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Gliosis OMIM:613002
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
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, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Pontocerebellar Hypoplasia, Type 4
Seizure, Gliosis, Myoclonus OMIM:225753
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
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
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Partial agenesis of the corpus callosum, Cerebe... ORPHA:79243
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Seizure, Gliosis OMIM:603896
L-2-Hydroxyglutaric Aciduria
Seizure, Gliosis OMIM:236792
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus, Gliosis, Agenesis ... ORPHA:168486
Huntington Disease
Seizure, Gliosis OMIM:143100
Kennedy Disease
Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Short stature, Gliosis OMIM:213200
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Gliosis, Myoclonus OMIM:604218
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Tremor, Seizure, Gliosis, Decreased testicular size ORPHA:457240
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Cryptorchidism, Opisthotonus, Seizure, Lateral ventricle dilatation, Status epilep... OMIM:619847
Intellectual Developmental Disorder, X-Linked 12
Short stature, Tremor, Cryptorchidism, Seizure, Gliosis OMIM:300957
Spinocerebellar Ataxia 17
Seizure, Gliosis, Myoclonus, Dystonia, Intention tremor OMIM:607136
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Hand tremor OMIM:604484
Sickle Cell Disease
Priapism OMIM:603903
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Scorpion Envenomation
Hemifacial spasm, Tremor, Seizure, Myoclonus, Priapism ORPHA:466677
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Seizure, Lateral ventricle dilatation, Gliosis, Myoclonus, Abnormal upper motor neuron morphology OMIM:221770
Microcephaly 10, Primary, Autosomal Recessive
Intrauterine growth retardation, Agenesis of corpus callosum, Gliosis OMIM:615095
Lissencephaly, X-Linked, 2
Seizure, Gliosis, Agenesis of corpus callosum, Decreased testicular size OMIM:300215
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Seizure, Gliosis OMIM:221820
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Gliosis, Autonomic erectile dysfunction OMIM:169500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Growth delay, Seizure, Gliosis, Dystonia ORPHA:3240
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Generalized-onset seizure OMIM:615750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis OMIM:105550
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, Gliosis, Myoclonic spas... OMIM:614498
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Acute Transverse Myelitis
Priapism, Abnormal libido ORPHA:139417
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis OMIM:618369
Autosomal Dominant Spastic Paraplegia Type 19
Seizure, Female sexual dysfunction, Male sexual dysfunction ORPHA:100999
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Leigh Syndrome
Seizure, Gliosis, Dystonia OMIM:256000
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Seizure, Agenesis of corpus callosum, Gliosis OMIM:214150
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Myoclonus, Astrocytosis ORPHA:204
Pick Disease Of Brain
Gliosis OMIM:172700
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis OMIM:608033
Hemochromatosis, Type 3
Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:604250
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Manganese Poisoning
Decreased female libido, Postural tremor, Impotence, Dystonia, Decreased male libido ORPHA:306682
Hjv Or Hamp-Related Hemochromatosis
Impotence, Hypogonadism ORPHA:79230
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Seizure, Impotence, Oligomenorrhea ORPHA:91354
Pontocerebellar Hypoplasia, Type 2A
Seizure, Dystonia, Gliosis, Opisthotonus OMIM:277470
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Gliosis, Abnormal upper motor neuron morphology ORPHA:275872
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Decreased fertility, Primary ... ORPHA:478
Pituicytoma
Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea ORPHA:251623
Attrv30M Amyloidosis
Impotence ORPHA:85447
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spastic Paraplegia 50, Autosomal Recessive
Seizure, Gliosis OMIM:612936
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Growth delay, Seizure, Gliosis, Myoclonus, Basal ganglia gliosis OMIM:614946
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Action tremor, Impotence, Inten... OMIM:300623
Combined Oxidative Phosphorylation Deficiency 24
Seizure, Agenesis of corpus callosum, Status epilepticus, Gliosis OMIM:616239
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Hemochromatosis, Type 4
Impotence OMIM:606069
Huntington Disease-Like 1
Seizure, Gliosis ORPHA:157941
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impotence, Intention tremor ORPHA:98
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Postural tremor, Dystonia, Decreased fertility... ORPHA:79239
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Growth delay, Seizure, Retractile testis, Gliosi... OMIM:617193
Neurodegeneration With Brain Iron Accumulation 2A
Seizure, Gliosis OMIM:256600
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Gliosis, Limb dystonia OMIM:604377
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... ORPHA:91348
Progressive Supranuclear Palsy
Tremor, Gliosis, Blepharospasm, Dystonia ORPHA:683
Pelizaeus-Merzbacher Disease, Connatal Form
Short stature, Gliosis, Titubation ORPHA:280210
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Autosomal Dominant Spastic Paraplegia Type 12
Seizure, Female sexual dysfunction, Male sexual dysfunction ORPHA:100993
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Gliosis, Myoclonus, Dystonia OMIM:168601
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea OMIM:235200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Infantile spasms, Seizure, Gliosis, Myoclonus, Dystonia OMIM:618321
Spinocerebellar Ataxia Type 42
Resting tremor, Impotence, Upper limb postural tremor, Head tremor ORPHA:458803
Sandhoff Disease
Impotence, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonic seizure OMIM:268800
Tay-Sachs Disease
Exaggerated startle response, Tremor, Typical absence seizure, Seizure, Focal impaired awareness ... ORPHA:845
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Perineural Cyst
Dyspareunia, Retrograde ejaculation, Male sexual dysfunction, Impotence, Infertility, Female sexu... ORPHA:65250
Adrenoleukodystrophy
Seizure, Impotence, Hypogonadism OMIM:300100
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Seizure, Impotence, Intention tremor OMIM:105210
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence OMIM:608088
Leigh Syndrome
Infantile spasms, Growth delay, Seizure, Athetosis, Choreoathetosis, Status epilepticus, Gliosis,... ORPHA:506
Kleefstra Syndrome Due To A Point Mutation
Seizure, Short stature, Gliosis ORPHA:261652
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... ORPHA:261529
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Infertility, Erectile dysfunction, Testicular atrophy, Amenorrhea ORPHA:465508
Familial Acute Necrotizing Encephalopathy
Seizure, Gliosis ORPHA:88619
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Gliosis, Myoclonic spasms OMIM:252160
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Machado-Joseph Disease
Gliosis, Dystonia OMIM:109150
Whipple Disease
Seizure, Myoclonus, Erectile dysfunction ORPHA:3452
Gangliocytoma
Focal-onset seizure, Impotence, Decreased female libido, Amenorrhea ORPHA:251937
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Action tremor, Tremor, Head titubation, Impotence, Erectile dysfuncti... ORPHA:99027
Mitochondrial Complex I Deficiency, Nuclear Type 2
Seizure, Gliosis, Dystonia OMIM:618222
Molybdenum Cofactor Deficiency, Complementation Group A
Opisthotonus, Growth delay, Seizure, Gliosis, Myoclonic spasms OMIM:252150
Young-Onset Parkinson Disease
Tremor, Female sexual dysfunction, Male sexual dysfunction, Dystonia ORPHA:2828
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Spinocerebellar Ataxia Type 8
Impotence, Dystonia ORPHA:98760
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Postural tremor, Short stature, Seizure, Status epilepticus, Myoclonus, Gliosis OMIM:301072
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Infantile spasms, Action tremor, Focal tonic seizure, Generalized non-motor (absence) seizure, At... ORPHA:404454
Pure Autonomic Failure
Impotence ORPHA:441
Multiple Acyl-Coa Dehydrogenase Deficiency
Seizure, Gliosis ORPHA:26791
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Adult Krabbe Disease
Erectile dysfunction ORPHA:206448
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Adrenomyeloneuropathy
Female sexual dysfunction, Male sexual dysfunction, Erectile dysfunction, Abnormal libido ORPHA:139399
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Primar... ORPHA:2232
Papillorenal Syndrome
Seizure, Short stature, Gliosis OMIM:120330
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Adenohypophysitis
Impotence, Decreased female libido, Decreased male libido, Amenorrhea ORPHA:95512
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
X-Linked Adrenoleukodystrophy
Impotence ORPHA:43
Mannosidosis, Alpha B, Lysosomal
Growth delay, Gliosis OMIM:248500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hereditary Late-Onset Parkinson Disease
Resting tremor, Gliosis, Dystonia ORPHA:411602
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short stature, Bilateral tonic-clonic seizure, Cryptorchidism, Typical absence seizure, Seizure, ... ORPHA:268261
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Supranuclear Palsy, Progressive, 1
Axial dystonia, Tremor, Astrocytosis, Gliosis, Retrocollis, Limb dystonia OMIM:601104
Panhypophysitis
Impotence, Decreased female libido, Decreased male libido, Amenorrhea ORPHA:95513
Poems Syndrome
Hypogonadism, Erectile dysfunction ORPHA:2905
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Diets-Jongmans Syndrome
Cryptorchidism, Seizure, Short stature, Gliosis OMIM:618846
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Astrocytosis, Status epilepticus, Myoclonus, Gliosis, Generalized n... OMIM:203700
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Congenital Disorder Of Deglycosylation 1
Myoclonic seizure, Seizure, Athetosis, Gliosis, Myoclonus, Action tremor OMIM:615273
Helsmoortel-Van Der Aa Syndrome
Short stature, Tonic seizure, Cryptorchidism, Typical absence seizure, Seizure, Lateral ventricle... OMIM:615873
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Multiple System Atrophy 1, Susceptibility To
Tremor, Impotence OMIM:146500
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure, Gliosis OMIM:261515
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Seizure, Infertilit... ORPHA:330015
Cockayne Syndrome
Severe short stature, Postnatal growth retardation, Cryptorchidism, Growth delay, Seizure, Gliosi... ORPHA:191
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures ORPHA:2239
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Pituitary Apoplexy
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea ORPHA:95613
Foix-Alajouanine Syndrome
Female sexual dysfunction, Male sexual dysfunction ORPHA:79093
Sheehan Syndrome
Dyspareunia, Decreased female libido, Impotence, Oligomenorrhea, Amenorrhea ORPHA:91355
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Gliosis, Retrocollis OMIM:609454
Gabriele-De Vries Syndrome
Tremor, Cryptorchidism, Gliosis, Dystonia, Intrauterine growth retardation, Agenesis of corpus ca... ORPHA:506358
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Fragile X-Associated Tremor/Ataxia Syndrome
Impotence, Intention tremor ORPHA:93256
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Seizure, Macroorchidism ORPHA:8
Cerebrotendinous Xanthomatosis
Resting tremor, Seizure, Gliosis, Dystonia, Palatal tremor ORPHA:909
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Generalized myoclonic seizure, Lateral ventricle dilatation, Gliosis OMIM:300868
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Seizure, Gliosis OMIM:617403
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Retrograde ejaculation, Impotence ORPHA:49041
Meningioma
Hemifacial spasm, Hypogonadotropic hypogonadism, Focal-onset seizure, Seizure, Impotence, Amenorrhea ORPHA:2495
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Tremor, Partial agenesis of the corpus callosum, Seizure, Gliosis, Dys... OMIM:220111
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty ORPHA:99429
Lambert-Eaton Myasthenic Syndrome
Impotence ORPHA:43393
Multiple Endocrine Neoplasia Type 1
Ependymoma, Atypical absence status epilepticus, Impotence, Decreased male libido, Amenorrhea ORPHA:652
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Seizure, Gliosis OMIM:124000
Pudendal Neuralgia
Dyspareunia, Impotence ORPHA:60039
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
African Trypanosomiasis
Abnormality of the menstrual cycle, Tremor, Choreoathetosis, Seizure, Impotence, Infertility ORPHA:3385
Steinert Myotonic Dystrophy
Hypergonadotropic hypogonadism, Decreased fertility, Impotence, Male hypogonadism, Testicular atr... ORPHA:273
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Norrie Disease
Cryptorchidism, Seizure, Erectile dysfunction, Delayed puberty ORPHA:649
Somatomammotropinoma
Impotence, Hypogonadotropic hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:314769
Acromegaly
Impotence, Hypogonadotropic hypogonadism, Dysmenorrhea ORPHA:963
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Oligozoospermia, Growth delay, Azoospermia, Se... ORPHA:125
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature OMIM:227650
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidis... ORPHA:1772
Exstrophy-Epispadias Complex
Cryptorchidism, Female sexual dysfunction, Male sexual dysfunction ORPHA:322
Paroxysmal Nocturnal Hemoglobinuria
Impotence ORPHA:447

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 Stam

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 Stam.

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

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.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter