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Gene: Stam MGI:1329014

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.

Human diseases associated with Stam (0 diseases)
Human diseases predicted to be associated with Stam (268 diseases)

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	Matching phenotypes	Source
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
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, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
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
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
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 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	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, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Hemimegalencephaly	Seizure, Epileptic spasm, Myoclonus, Gliosis, Focal tonic seizure, Atonic seizure, Focal motor se...	ORPHA:99802
Developmental And Epileptic Encephalopathy 14	Focal autonomic seizure, Generalized tonic seizure, Gliosis, Focal motor seizure, Status epilepticus	OMIM:614959
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
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
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
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
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
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
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis	OMIM:300857
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Developmental And Epileptic Encephalopathy 71	Gliosis, Seizure	OMIM:618328
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
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 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis, Seizure	OMIM:613002
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
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
Pontocerebellar Hypoplasia, Type 4	Myoclonus, Gliosis, Seizure	OMIM:225753
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Leukoencephalopathy With Vanishing White Matter 1	Seizure, Gliosis, Primary amenorrhea, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:603896
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lateral ventricle dilatation, Seizure, Partial agenesis of the corpus callosum, Intrauterine grow...	ORPHA:79243
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
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
Kennedy Disease	Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Congenital Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Seizure, Abnormal astrocyte morphology, Agenesis of corpus callosum, Gliosis, ...	ORPHA:168486
Huntington Disease	Gliosis, Seizure	OMIM:143100
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spinocerebellar Ataxia, Autosomal Recessive 2	Short stature, Gliosis, Tremor	OMIM:213200
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Gliosis, Seizure	OMIM:604218
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spinocerebellar Ataxia 17	Seizure, Myoclonus, Gliosis, 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
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Scorpion Envenomation	Priapism, Seizure, Hemifacial spasm, Myoclonus, Tremor	ORPHA:466677
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Tremor, Gliosis, Bilateral tonic-clonic seizure, Short stature	ORPHA:457240
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Seizure, Febrile seizure (within the age range of 3 months to 6 yea...	OMIM:619847
Microcephaly 10, Primary, Autosomal Recessive	Intrauterine growth retardation, Gliosis, Agenesis of corpus callosum	OMIM:615095
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Seizure, Abnormal upper motor neuron morphology, Myoclonus, Gliosis	OMIM:221770
Intellectual Developmental Disorder, X-Linked 12	Short stature, Seizure, Gliosis, Tremor	OMIM:300957
Primary Non-Essential Cutis Verticis Gyrata	Gliosis, Seizure	ORPHA:357225
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Impotence, Gliosis, Autonomic erectile dysfunction	OMIM:169500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Gliosis, Seizure	OMIM:221820
Moyamoya Disease 6 With Or Without Achalasia	Generalized-onset seizure, Impotence	OMIM:615750
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Seizure, Head titubation, Gliosis, Vestibular areflexia, Growth delay	ORPHA:3240
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Sickle Cell Anemia	Priapism	ORPHA:232
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, Focal-onset seizure, Gliosis, Myoclonic spasms, Multifocal seizure...	OMIM:614498
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Gliosis, Amyotrophic lateral sclerosis	OMIM:105550
Leigh Syndrome, Nuclear	Dystonia, Gliosis, Seizure	OMIM:256000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Acute Transverse Myelitis	Priapism, Abnormal libido	ORPHA:139417
Spinocerebellar Ataxia, Autosomal Recessive 27	Gliosis, Torticollis	OMIM:618369
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Lissencephaly, X-Linked, 2	Gliosis, Seizure, Agenesis of corpus callosum	OMIM:300215
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Amenorrhea	OMIM:604250
Prolactinoma	Irregular menstruation, Male hypogonadism, Seizure, Abnormality of the menstrual cycle, Hypogonad...	ORPHA:2965
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Myoclonus, Gliosis	ORPHA:204
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Seizure	OMIM:608033
Pick Disease Of Brain	Gliosis	OMIM:172700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Impotence, Oligomenorrhea, Seizure	ORPHA:91354
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Hjv Or Hamp-Related Hemochromatosis	Hypogonadism, Impotence	ORPHA:79230
Manganese Poisoning	Decreased male libido, Postural tremor, Decreased female libido, Dystonia, Impotence	ORPHA:306682
Pudendal Neuralgia	Dyspareunia, Erectile dysfunction, Allodynia	ORPHA:60039
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Pontocerebellar Hypoplasia, Type 2A	Opisthotonus, Dystonia, Gliosis, Seizure	OMIM:277470
Pituicytoma	Hypogonadotropic hypogonadism, Impotence, Decreased female libido, Amenorrhea	ORPHA:251623
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Gliosis	ORPHA:275872
Attrv30M Amyloidosis	Impotence	ORPHA:85447
Cerebrooculofacioskeletal Syndrome 1	Gliosis, Seizure, Agenesis of corpus callosum	OMIM:214150
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Action tremor, Premature ovarian insufficiency, Impotence, Inten...	OMIM:300623
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Spastic Paraplegia 50, Autosomal Recessive	Gliosis, Seizure	OMIM:612936
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Combined Oxidative Phosphorylation Deficiency 24	Status epilepticus, Gliosis, Seizure, Agenesis of corpus callosum	OMIM:616239
Autosomal Dominant Spastic Paraplegia Type 19	Male sexual dysfunction, Female sexual dysfunction	ORPHA:100999
Combined Oxidative Phosphorylation Deficiency 14	Myoclonic seizure, Seizure, Myoclonus, Gliosis, Growth delay, Basal ganglia gliosis	OMIM:614946
Kallmann Syndrome	Seizure, Decreased fertility, Tremor, Hypogonadotropic hypogonadism, Delayed puberty, Dyspareunia...	ORPHA:478
Non-Functioning Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Seizure, Abnormality of the menstrual cycle, Hypogonad...	ORPHA:91349
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
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impotence, Intention tremor	ORPHA:98
Hemochromatosis, Type 4	Impotence	OMIM:606069
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
L-2-Hydroxyglutaric Aciduria	Gliosis, Seizure	OMIM:236792
Huntington Disease-Like 1	Gliosis, Seizure	ORPHA:157941
Classic Galactosemia	Seizure, Postural tremor, Action tremor, Decreased fertility in females, Delayed puberty, Oligome...	ORPHA:79239
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Gliosis, Limb dystonia, Basal ganglia gliosis	OMIM:604377
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Increased female libido, Hypogonadot...	ORPHA:432
Narcolepsy Type 1	Male sexual dysfunction, Female sexual dysfunction	ORPHA:2073
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence	OMIM:235200
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Titubation, Gliosis	ORPHA:280210
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Impotence	OMIM:608088
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Head tremor, Impotence, Resting tremor	ORPHA:458803
Functioning Gonadotropic Adenoma	Abnormality of the menstrual cycle, Decreased female libido, Amenorrhea, Delayed puberty, Oligozo...	ORPHA:91348
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Seizure, Generalized dystonia, Infantile spasms, Myoclonus, Gliosis, Dystonia	OMIM:618321
Tay-Sachs Disease	Typical absence seizure, Seizure, Laryngeal dystonia, Myoclonus, Tremor, Gliosis, Exaggerated sta...	ORPHA:845
Sandhoff Disease	Myoclonic seizure, Impotence, Bilateral tonic-clonic seizure, Exaggerated startle response	OMIM:268800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Seizure, Epileptic spasm, Generalized tonic seizure, Gliosis, Bilateral tonic-clonic seizure, Gro...	OMIM:617193
Adrenoleukodystrophy	Hypogonadism, Impotence, Seizure	OMIM:300100
Parkinson Disease 1, Autosomal Dominant	Gliosis, Dystonia, Myoclonus, Resting tremor	OMIM:168601
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased libido, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Infertility, Ere...	ORPHA:465508
Amyloidosis, Hereditary Systemic 1	Impotence, Seizure, Intention tremor, Tremor	OMIM:105210
Neurodegeneration With Brain Iron Accumulation 2A	Gliosis, Seizure	OMIM:256600
Tsh-Secreting Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Seizure, Abnormality of the menstrual cycle, Hypogonad...	ORPHA:91347
Kleefstra Syndrome Due To A Point Mutation	Short stature, Gliosis, Seizure	ORPHA:261652
Progressive Supranuclear Palsy	Blepharospasm, Dystonia, Gliosis, Tremor	ORPHA:683
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Myoclonus, Gliosis, Bilateral tonic-clonic seizure, Exaggerated sta...	OMIM:620451
Leigh Syndrome	Seizure, Intrauterine growth retardation, Infantile spasms, Agenesis of corpus callosum, Gliosis,...	ORPHA:506
Familial Acute Necrotizing Encephalopathy	Gliosis, Seizure	ORPHA:88619
Molybdenum Cofactor Deficiency, Type B	Seizure, Opisthotonus, Gliosis, Bilateral tonic-clonic seizure, Myoclonic spasms, Growth delay	OMIM:252160
Autosomal Dominant Spastic Paraplegia Type 12	Male sexual dysfunction, Female sexual dysfunction	ORPHA:100993
Machado-Joseph Disease	Dystonia, Gliosis	OMIM:109150
Gangliocytoma	Amenorrhea, Impotence, Decreased female libido, Focal-onset seizure	ORPHA:251937
Whipple Disease	Myoclonus, Erectile dysfunction, Seizure	ORPHA:3452
Adult Krabbe Disease	Erectile dysfunction	ORPHA:206448
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Action tremor, Tremor, Head titubation, Erectile dysfunction, Impoten...	ORPHA:99027
Mitochondrial Complex I Deficiency, Nuclear Type 2	Dystonia, Gliosis, Seizure	OMIM:618222
Young-Onset Parkinson Disease	Female sexual dysfunction, Dystonia, Male sexual dysfunction, Tremor	ORPHA:2828
Familial Peripheral Male-Limited Precocious Puberty	Oligozoospermia, Male infertility	ORPHA:3000
Molybdenum Cofactor Deficiency, Type A	Seizure, Opisthotonus, Gliosis, Myoclonic spasms, Growth delay	OMIM:252150
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Short...	ORPHA:261529
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Spinocerebellar Ataxia Type 8	Dystonia, Impotence	ORPHA:98760
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Pure Autonomic Failure	Impotence	ORPHA:441
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Atonic seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Action trem...	ORPHA:404454
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seizure, Postural tremor, Myoclonus, Gliosis, Short stature, Status epilepticus	OMIM:301072
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm, Infantile s...	OMIM:620455
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Seizure	ORPHA:26791
Adrenomyeloneuropathy	Erectile dysfunction, Male sexual dysfunction, Female sexual dysfunction, Abnormal libido	ORPHA:139399
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Lateral ventricle dilatation, Seizure, Colpocephaly, Gliosis, Bilateral tonic-clonic seizure, Sho...	OMIM:620371
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Non-obstructive azoospermia, Streak ovary, Delayed puberty, Primary amenorrhea, Infert...	ORPHA:2232
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Adenohypophysitis	Amenorrhea, Impotence, Decreased female libido, Decreased male libido	ORPHA:95512
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
X-Linked Adrenoleukodystrophy	Impotence	ORPHA:43
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Papillorenal Syndrome	Short stature, Gliosis, Seizure	OMIM:120330
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Panhypophysitis	Amenorrhea, Impotence, Decreased female libido, Decreased male libido	ORPHA:95513
Mannosidosis, Alpha B, Lysosomal	Growth delay, Gliosis	OMIM:248500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ...	ORPHA:268261
Hereditary Late-Onset Parkinson Disease	Gliosis, Dystonia, Resting tremor	ORPHA:411602
Poems Syndrome	Hypogonadism, Erectile dysfunction	ORPHA:2905
Supranuclear Palsy, Progressive, 1	Astrocytosis, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Gliosis	OMIM:601104
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Focal myoclonic seizure, Astrocytosis, Myoclonus, Gliosis, Generali...	OMIM:203700
Congenital Disorder Of Deglycosylation 1	Myoclonic seizure, Seizure, Myoclonus, Action tremor, Gliosis, Athetosis	OMIM:615273
Multiple System Atrophy 1, Susceptibility To	Impotence, Tremor	OMIM:146500
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Lead Poisoning	Decreased male libido, Seizure, Abnormality of the menstrual cycle, Decreased female libido, Abno...	ORPHA:330015
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Gliosis, Seizure	OMIM:261515
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Partial Androgen Insensitivity Syndrome	Azoospermia, Male sexual dysfunction, Male infertility, Primary amenorrhea	ORPHA:90797
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Male infertility	ORPHA:2239
Helsmoortel-Van Der Aa Syndrome	Typical absence seizure, Lateral ventricle dilatation, Seizure, Intrauterine growth retardation, ...	OMIM:615873
Foix-Alajouanine Syndrome	Male sexual dysfunction, Female sexual dysfunction	ORPHA:79093
Sheehan Syndrome	Decreased female libido, Amenorrhea, Oligomenorrhea, Dyspareunia, Impotence	ORPHA:91355
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Pituitary Apoplexy	Impotence, Oligomenorrhea, Hypergonadotropic hypogonadism	ORPHA:95613
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Cockayne Syndrome	Severe short stature, Seizure, Postnatal growth retardation, Action tremor, Delayed puberty, Glio...	ORPHA:191
Supranuclear Palsy, Progressive, 2	Gliosis, Postural tremor, Retrocollis, Axial dystonia	OMIM:609454
Fragile X-Associated Tremor/Ataxia Syndrome	Impotence, Intention tremor	ORPHA:93256
Cerebrotendinous Xanthomatosis	Resting tremor, Seizure, Gliosis, Dystonia, Palatal tremor	ORPHA:909
Diets-Jongmans Syndrome	Short stature, Gliosis, Seizure	OMIM:618846
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Generalized myoclonic seizure, Gliosis	OMIM:300868
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Tremor, Agenesis of corpus callosum, Gliosis, Dystonia	ORPHA:506358
47,Xyy Syndrome	Male infertility, Azoospermia, Seizure, Oligozoospermia	ORPHA:8
Meningioma	Seizure, Hemifacial spasm, Hypogonadotropic hypogonadism, Amenorrhea, Impotence, Focal-onset seizure	ORPHA:2495
Igg4-Related Retroperitoneal Fibrosis	Impotence, Retrograde ejaculation	ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Seizure, Generalized-onset seizure, Partial agenesis of the corpus callosum, Tremor, Gliosis, Dys...	OMIM:220111
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis, Seizure	OMIM:617403
Lambert-Eaton Myasthenic Syndrome	Impotence	ORPHA:43393
Multiple Endocrine Neoplasia Type 1	Decreased male libido, Ependymoma, Amenorrhea, Atypical absence status epilepticus, Impotence	ORPHA:652
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Gliosis, Seizure	OMIM:124000
Steinert Myotonic Dystrophy	Male hypogonadism, Decreased fertility, Testicular atrophy, Impotence, Hypergonadotropic hypogona...	ORPHA:273
African Trypanosomiasis	Seizure, Abnormality of the menstrual cycle, Tremor, Infertility, Impotence, Choreoathetosis	ORPHA:3385
Somatomammotropinoma	Hypogonadotropic hypogonadism, Impotence, Amenorrhea, Dysmenorrhea	ORPHA:314769
Norrie Disease	Delayed puberty, Erectile dysfunction, Seizure	ORPHA:649
Acromegaly	Hypogonadotropic hypogonadism, Impotence, Dysmenorrhea	ORPHA:963
Aromatase Deficiency	Female infertility, Male infertility, Primary amenorrhea, Growth delay, Hypergonadotropic hypogon...	ORPHA:91
Paroxysmal Nocturnal Hemoglobinuria	Impotence	ORPHA:447
Exstrophy-Epispadias Complex	Male sexual dysfunction, Female sexual dysfunction	ORPHA:322

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.

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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