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Gene: Tac1 MGI:98474

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Gene Summary

Name:
tachykinin 1
Synonyms:
neurokinin 1,  neurokinin A,  NK-1,  PPT-A,  NK1,  preprotachykinin A,  SP,  substance P,  4930528L02Rik,  Nkna,  PPTA

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tac1 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 Tac1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Affective Disorder 1
Mania, Depression OMIM:125480
Major Depressive Disorder
Depression OMIM:608516
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Spastic Paraplegia 13, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:605280
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Spastic Paraplegia 19, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607152
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Spastic Paraplegia 12, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604805
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Spastic Paraplegia 8, Autosomal Dominant
Urinary urgency, Low back pain, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:603563
Autosomal Dominant Spastic Paraplegia Type 13
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:100994
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:613096
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Bowel incontinence OMIM:236690
Spastic Paraplegia 6, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:600363
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Spastic Paraplegia 3, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182600
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607565
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency, Myalgia OMIM:619027
Siddiqi Syndrome
Urinary incontinence OMIM:618635
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence ORPHA:93928
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Bowel incontinence OMIM:105300
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Autosomal Spastic Paraplegia Type 72
Pain, Urinary bladder sphincter dysfunction ORPHA:401849
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence OMIM:300419
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Spastic Paraplegia 4, Autosomal Dominant
Urinary urgency, Low back pain, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182601
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Vesicouret... ORPHA:84085
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Urinary incontinence OMIM:620368
Spastic Paraplegia 10, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604187
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Spastic Paraplegia 16, X-Linked
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:300266
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:306511
Autosomal Dominant Spastic Paraplegia Type 73
Urinary urgency, Urinary incontinence ORPHA:444099
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence ORPHA:100988
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence OMIM:607225
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Urinary incontinence ORPHA:320365
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ... ORPHA:93108
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:206583
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia OMIM:609727
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence OMIM:613115
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Peroxisome Biogenesis Disorder 14B
Urinary incontinence OMIM:614920
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Adenine Phosphoribosyltransferase Deficiency
Abdominal colic, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Dysuria, F... ORPHA:976
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence OMIM:616907
Ketamine-Induced Biliary Dilatation
Dysuria, Abdominal pain ORPHA:293807
3-Methylglutaconic Aciduria Type 9
3-Methylglutaconic aciduria, Urinary incontinence ORPHA:505216
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Pure Autonomic Failure
Dysuria, Constitutional symptom, Urinary incontinence ORPHA:441
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence OMIM:602099
Autosomal Dominant Spastic Paraplegia Type 8
Urinary urgency, Urinary incontinence ORPHA:100989
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence OMIM:613647
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Spastic Paraplegia 11, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604360
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence OMIM:616795
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence OMIM:620094
Spastic Paraplegia 85, Autosomal Recessive
Urinary incontinence OMIM:619686
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Urinary incontinence OMIM:263570
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Paraparetic Variant Of Guillain-Barré Syndrome
Pain, Sciatica, Urinary bladder sphincter dysfunction ORPHA:231445
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Perineural Cyst
Shoulder pain, Recurrent urinary tract infections, Low back pain, Urinary incontinence, Bowel inc... ORPHA:65250
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence OMIM:615284
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:617698
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Spinocerebellar Ataxia 48
Urinary incontinence OMIM:618093
Spastic Paraplegia 15, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence OMIM:270700
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Baralle-Macken Syndrome
Urinary incontinence OMIM:619255
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Huntington Disease-Like 3
Urinary incontinence, Bowel incontinence OMIM:604802
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Spastic Paraplegia 7, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607259
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria, Abdominal pain ORPHA:284400
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence OMIM:213600
Syringomyelia, Noncommunicating Isolated
Urinary incontinence, Neck pain OMIM:186700
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Camptobrachydactyly
Urinary incontinence OMIM:114150
Sandhoff Disease, Juvenile Form
Urinary incontinence ORPHA:309162
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence OMIM:270800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Autosomal Dominant Spastic Paraplegia Type 12
Urinary urgency, Urinary incontinence, Bowel incontinence ORPHA:100993
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Abdominal pain, Urinary retention, Elevated urinary delta-aminolev... OMIM:176000
Foix-Alajouanine Syndrome
Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Functiona... ORPHA:79093
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence OMIM:616688
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence OMIM:614409
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Autosomal Dominant Spastic Paraplegia Type 38
Urinary incontinence ORPHA:171617
Neuromyelitis Optica Spectrum Disorder
Ocular pain, Functional abnormality of the bladder, Recurrent singultus ORPHA:71211
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Bowel incontinence OMIM:618868
Huntington Disease-Like 3
Urinary incontinence, Bowel incontinence ORPHA:157946
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence ORPHA:320391
Spinocerebellar Ataxia Type 25
Urinary urgency, Episodic abdominal pain ORPHA:101111
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Spastic Paraplegia 9B, Autosomal Recessive
Urinary retention, Urinary incontinence OMIM:616586
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence ORPHA:464282
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Myopathy, Myofibrillar, 7
Myalgia, Urinary incontinence, Bowel incontinence, Enuresis nocturna OMIM:617114
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence OMIM:300100
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence OMIM:603516
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Myalgia, Urinary incontinence, Bowel incontinence ORPHA:329478
Chiari Malformation Type I
Urinary incontinence, Neck pain OMIM:118420
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary urgency, Urinary incontinence OMIM:606071
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence ORPHA:98
Spastic Paraplegia 54, Autosomal Recessive
Urinary incontinence, Bowel incontinence OMIM:615033
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Urinary incontinence, Bowel incontinence OMIM:600142
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Bowel incontinence ORPHA:289560
Acute Intermittent Porphyria
Back pain, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pain, Porphy... ORPHA:79276
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence OMIM:243000
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Urinary incontinence OMIM:609033
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence ORPHA:466722
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Urinary incontinence, Urinary urgency, Pollakisuria, Lower limb pain ORPHA:447753
Spinocerebellar Ataxia Type 13
Urinary urgency, Urinary incontinence ORPHA:98768
Adrenomyeloneuropathy
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Urinary urgency, Urinary retention,... ORPHA:139399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence OMIM:604320
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Urinary incontinence OMIM:608654
Fragile X Tremor/Ataxia Syndrome
Myalgia, Urinary incontinence, Bowel incontinence OMIM:300623
Marchiafava-Bignami Disease
Urinary incontinence ORPHA:221074
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Spinocerebellar Ataxia Type 42
Urinary urgency, Urinary incontinence ORPHA:458803
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:183090
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:601162
Autosomal Dominant Centronuclear Myopathy
Exercise-induced myalgia, Urinary incontinence ORPHA:169189
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Sandhoff Disease
Exaggerated startle response, Urinary incontinence, Episodic abdominal pain OMIM:268800
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence OMIM:620070
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Urinary incontinence ORPHA:98784
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence OMIM:301041
Childhood Absence Epilepsy
Urinary incontinence ORPHA:64280
Encephalitis Lethargica
Limb pain, Myalgia, Urinary incontinence, Bowel incontinence ORPHA:83600
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence OMIM:125310
Spinal Arteriovenous Metameric Syndrome
Fatigue, Abnormality of the kidney, Bone pain, Arthralgia, Gangrene, Urinary bladder sphincter dy... ORPHA:53721
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stress urinary incontinence ORPHA:136
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Urinary incontinence, Bowel incontinence OMIM:618877
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Urinary incontinence ORPHA:247234
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Urinary incontinence, Bowel incontinence OMIM:300243
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Urinary urgency ORPHA:171612
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence ORPHA:352641
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy ORPHA:69076
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Arachnoiditis
Fatigue, Arthralgia, Urinary bladder sphincter dysfunction ORPHA:137817
Cog5-Cdg
Neurogenic bladder, Micropenis, Urinary incontinence ORPHA:263487
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence OMIM:618885
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Primary Progressive Freezing Gait
Urinary incontinence ORPHA:75567
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Spastic Paraplegia Type 2
Spastic/hyperactive bladder, Bowel incontinence ORPHA:99015
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence ORPHA:88644
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Spinocerebellar Ataxia Type 8
Urinary incontinence ORPHA:98760
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Urinary incontinence OMIM:146500
Autosomal Recessive Spastic Paraplegia Type 35
Pollakisuria, Urinary incontinence, Bowel incontinence, Enuresis nocturna ORPHA:171629
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence ORPHA:300605
Amyotrophic Lateral Sclerosis 2, Juvenile
Urinary incontinence OMIM:205100
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Urinary incontinence, Bowel incontinence ORPHA:496641
Metachromatic Leukodystrophy
Urinary incontinence OMIM:250100
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence OMIM:105210
Epilepsy, Progressive Myoclonic, 10
Urinary incontinence OMIM:616640
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Urinary incontinence, Bowel incontinence OMIM:617193
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Bowel incontinence OMIM:616482
Arachnoid Cyst
Back pain, Urinary incontinence, Abdominal pain, Urinary bladder sphincter dysfunction, Sciatica,... ORPHA:2356
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence ORPHA:225147
Adult Krabbe Disease
Urinary incontinence ORPHA:206448
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... OMIM:176450
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence ORPHA:101085
Trigeminal Neuralgia
Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia ORPHA:221091
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence ORPHA:309256
Metachromatic Leukodystrophy
Urinary incontinence, Bowel incontinence, Limb pain, Impaired continence, Pain ORPHA:512
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence ORPHA:309263
Intellectual Developmental Disorder, X-Linked 98
Steroid-dependent nephrotic syndrome, Urinary incontinence OMIM:300912
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Recurrent urinary tract infections, Allodynia, Abdominal pain ORPHA:51890
Split Cord Malformation
Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct... ORPHA:573278
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Central Diabetes Insipidus
Nocturia ORPHA:178029
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence ORPHA:476126
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Abdominal pain, Tubulointerstitia... ORPHA:358
Spastic Paraplegia Type 7
Urinary urgency, Lower limb pain ORPHA:99013
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence ORPHA:309271
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Neuroleptic Malignant Syndrome
Fatigue, Rigors, Proteinuria, Urinary incontinence, Myoglobinuria, Acute kidney injury ORPHA:94093
Complex Regional Pain Syndrome
Limb pain, Allodynia ORPHA:83452
Glycogen Storage Disease Ii
Exercise intolerance, Urinary incontinence OMIM:232300
Arnold-Chiari Malformation Type I
Urinary incontinence, Neck pain ORPHA:268882
Malakoplakia
Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Urinary urgency, Hematuria, C... ORPHA:556
Acute Transverse Myelitis
Back pain, Fatigue, Urinary incontinence, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:139417
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence ORPHA:314404
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial amyloid deposits,... ORPHA:85450
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration... ORPHA:199343
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... OMIM:619522
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Fatigue, Urinary incontinence ORPHA:466768
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency OMIM:601338
Pudendal Neuralgia
Back pain, Abdominal colic, Dysuria, Vulvodynia, Episodic abdominal pain, Pollakisuria, Scrotal p... ORPHA:60039
Urachal Cyst
Dysuria, Pyuria, Abdominal pain, Urachus fistula, Hematuria, Chills ORPHA:488
Adnp Syndrome
Recurrent urinary tract infections, Urinary incontinence ORPHA:404448
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence OMIM:619934
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Cln3 Disease
Urinary bladder sphincter dysfunction ORPHA:228346
Iatrogenic Botulism
Fatigue, Urinary retention ORPHA:254509
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Spastic/hyperactive bladder ORPHA:100991
Alexander Disease Type Ii
Urinary bladder sphincter dysfunction ORPHA:363722
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hip pain, Urinary bladder sphincter dysfunction ORPHA:52430
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency OMIM:619621
Gitelman Syndrome
Fatigue, Polyuria, Abdominal pain, Renal magnesium wasting, Enuresis, Arthralgia, Hypocalciuria, ... OMIM:263800
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence OMIM:619482
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Inhalational Botulism
Fatigue, Urinary retention ORPHA:254504
Kufor-Rakeb Syndrome
Fatigue, Urinary incontinence, Bowel incontinence ORPHA:306674
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Urinary incontinence ORPHA:447997
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Encopresis, Abdominal pain ORPHA:589821
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Meningioma
Back pain, Ear pain, Urinary incontinence, Trigeminal neuralgia ORPHA:2495
Blepharophimosis-Impaired Intellectual Development Syndrome
Enuresis, Recurrent urinary tract infections, Hypospadias OMIM:619293
Spastic Paraplegia 20, Autosomal Recessive
Urinary urgency OMIM:275900
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency OMIM:609270
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting OMIM:612780
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Renal insufficiency, Dysuria, Abdominal pain, Flank pain, Renovascular hy... ORPHA:49041
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:43
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Machado-Joseph Disease
Urinary bladder sphincter dysfunction, Chronic pain OMIM:109150
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence OMIM:234200
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Friedreich Ataxia
Urinary bladder sphincter dysfunction, Impaired visually enhanced vestibulo-ocular reflex ORPHA:95
Visceral Myopathy 1
Abdominal pain, Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis OMIM:155310
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction, Myalgia, Bowel incontinence ORPHA:93256
Orthostatic Hypotension 1
Nocturia OMIM:223360
Pelizaeus-Merzbacher Disease
Urinary urgency OMIM:312080
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Elevated urinary dopamine level, Chest pain, Nocturia ORPHA:230
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
African Trypanosomiasis
Fatigue, Rigors, Renal insufficiency, Urinary incontinence, Arthralgia ORPHA:3385
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction OMIM:164400
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Tenorio Syndrome
Enuresis OMIM:616260
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Chordee, Ves... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Abnormality ... ORPHA:2152
Citrullinemia Type Ii
Enuresis, Night sweats ORPHA:247585
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Duplication ... ORPHA:261552
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Allodynia, Abdominal pain OMIM:603041
Superficial Siderosis
Back pain, Functional abnormality of the bladder ORPHA:247245
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary urgency, Recurrent urinary tract infections, Urinary retention, Myalgia ORPHA:99027
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... ORPHA:64
Isolated Posterior Meningocele
Enuresis, Bowel incontinence ORPHA:268810
Benign Schwannoma
Pain, Allodynia ORPHA:252164
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder ORPHA:411602
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Myalgia, Nocturia ORPHA:254892
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension ORPHA:391487
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Chronic pain... ORPHA:79408
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis ORPHA:369950
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Sudden death,... OMIM:194050
Parkinson Disease 14, Autosomal Recessive
Nocturia OMIM:612953
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Urinary urgency, Arthralgia, Micropenis, Pelvic kidney OMIM:619503

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 Tac1

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 Tac1.

No publications found that use IMPC mice or data for Tac1.

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MGI Allele Allele Type Produced
Tac1em1(IMPC)H Exon Deletion Mice

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