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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
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Spastic Paraplegia 13, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:605280
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Urinary incontinence OMIM:156310
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Spastic Paraplegia 19, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:604805
Geniospasm 1
Anxiety OMIM:190100
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Vesicoureteral reflux, Urin... OMIM:618612
Spastic Paraplegia 8, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:603563
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Autosomal Dominant Spastic Paraplegia Type 13
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence ORPHA:100994
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:613096
Spastic Paraplegia 6, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:600363
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence OMIM:236690
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Spastic Paraplegia 10, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:604187
Spastic Paraplegia 3, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:182600
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:607565
Isolated Epispadias
Anteriorly displaced urethral meatus, Urinary incontinence, Vesicoureteral reflux, Epispadias ORPHA:93928
Spastic Paraplegia 83, Autosomal Recessive
Myalgia, Urinary urgency OMIM:619027
Siddiqi Syndrome
Urinary incontinence OMIM:618635
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence OMIM:105300
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction, Pain ORPHA:401849
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence OMIM:300419
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Autosomal Dominant Spastic Paraplegia Type 73
Urinary urgency, Urinary incontinence ORPHA:444099
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Spastic Paraplegia 4, Autosomal Dominant
Urinary bladder sphincter dysfunction, Low back pain, Urinary urgency, Urinary incontinence OMIM:182601
Chorea, Benign Hereditary
Anxiety OMIM:118700
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Spastic Paraplegia 16, X-Linked
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:300266
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Urinary urgency ORPHA:100985
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:306511
Bladder Diverticulum
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he... OMIM:109820
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Urinary incontinence ORPHA:320365
Interstitial Cystitis
Abnormality of the urethra, Nocturia, Urinary urgency, Functional abnormality of the bladder, Abn... ORPHA:37202
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence ORPHA:100988
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence OMIM:613115
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Myoclonus-Dystonia Syndrome
Depression, Personality disorder, Anxiety, Panic attack ORPHA:36899
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence OMIM:613647
Renal Dysplasia
Flank pain, Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethra... ORPHA:93108
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Spastic Paraplegia 29, Autosomal Dominant
Urinary hesitancy, Nocturia, Urinary urgency, Urinary incontinence OMIM:609727
Adult Polyglucosan Body Disease
Urinary bladder sphincter dysfunction, Neurogenic bladder, Urinary incontinence ORPHA:206583
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence OMIM:615284
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Flank pain, Recurrent ur... ORPHA:976
Peroxisome Biogenesis Disorder 14B
Urinary incontinence OMIM:614920
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Ketamine-Induced Biliary Dilatation
Dysuria, Abdominal pain ORPHA:293807
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence OMIM:616907
Autosomal Dominant Spastic Paraplegia Type 8
Urinary urgency, Urinary incontinence ORPHA:100989
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Pure Autonomic Failure
Constitutional symptom, Dysuria, Urinary incontinence ORPHA:441
3-Methylglutaconic Aciduria Type 9
3-Methylglutaconic aciduria, Urinary incontinence ORPHA:505216
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:604360
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence OMIM:602099
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence OMIM:616795
Spastic Paraplegia 85, Autosomal Recessive
Urinary incontinence OMIM:619686
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence OMIM:607225
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Pain, Micropenis,... ORPHA:237
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence ORPHA:168782
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Perineural Cyst
Urinary bladder sphincter dysfunction, Hip pain, Abdominal pain, Sciatica, Lower limb pain, Shoul... ORPHA:65250
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Urinary incontinence OMIM:617698
Spastic Paraplegia 15, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Bowel incontinence, Urinary incontinence OMIM:270700
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Baralle-Macken Syndrome
Urinary incontinence OMIM:619255
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence ORPHA:352641
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Abdominal pain ORPHA:284400
Spinocerebellar Ataxia 48
Urinary incontinence OMIM:618093
Autosomal Dominant Spastic Paraplegia Type 12
Urinary urgency, Bowel incontinence, Urinary incontinence ORPHA:100993
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence OMIM:213600
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Spastic Paraplegia 54, Autosomal Recessive
Bowel incontinence, Urinary incontinence OMIM:615033
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Syringomyelia, Noncommunicating Isolated
Neck pain, Urinary incontinence OMIM:186700
Camptobrachydactyly
Urinary incontinence OMIM:114150
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence OMIM:270800
Spastic Paraplegia 7, Autosomal Recessive
Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence OMIM:607259
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence OMIM:604802
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Foix-Alajouanine Syndrome
Back pain, Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Low back... ORPHA:79093
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence OMIM:614409
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence OMIM:616688
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Porphyria, Acute Intermittent
Dysuria, Abdominal pain, Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary i... OMIM:176000
Pudendal Neuralgia
Dysuria, Back pain, Episodic abdominal pain, Scrotal pain, Pollakisuria, Vulvodynia, Abdominal colic ORPHA:60039
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence OMIM:617145
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Ocular pain, Recurrent singultus ORPHA:71211
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Bowel incontinence, Urinary incontinence OMIM:618868
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence ORPHA:157946
Spinocerebellar Ataxia Type 25
Episodic abdominal pain, Urinary urgency ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence ORPHA:320391
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence ORPHA:464282
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Dopa-Responsive Dystonia
Fatigue, Pain, Urinary incontinence ORPHA:255
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary urgency, Urinary incontinence OMIM:606071
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Adult-Onset Distal Myopathy Due To Vcp Mutation
Myalgia, Back pain, Bowel incontinence, Urinary incontinence ORPHA:329478
Myopathy, Myofibrillar, 7
Myalgia, Enuresis nocturna, Bowel incontinence, Urinary incontinence OMIM:617114
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Bowel incontinence, Urinary incontinence OMIM:300100
Chiari Malformation Type I
Neck pain, Urinary incontinence OMIM:118420
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence OMIM:603516
Acute Intermittent Porphyria
Dark urine, Dysuria, Back pain, Abdominal pain, Increased urinary porphobilinogen, Limb pain, Ele... ORPHA:79276
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence ORPHA:98
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bowel incontinence, Urinary incontinence ORPHA:289560
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence OMIM:243000
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:601162
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Urinary incontinence OMIM:609033
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Bowel incontinence, Urinary incontinence OMIM:600142
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Autosomal Dominant Spastic Paraplegia Type 9A
Lower limb pain, Urinary urgency, Low back pain, Pollakisuria, Urinary incontinence ORPHA:447753
Adrenomyeloneuropathy
Urinary bladder sphincter dysfunction, Back pain, Impaired continence, Fatigue, Urinary urgency, ... ORPHA:139399
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neurogenic bladder, Urinary incontinence ORPHA:466722
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Urinary incontinence OMIM:604320
Spinocerebellar Ataxia Type 13
Urinary urgency, Urinary incontinence ORPHA:98768
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:183090
Fragile X Tremor/Ataxia Syndrome
Myalgia, Bowel incontinence, Urinary incontinence OMIM:300623
X-Linked Non-Syndromic Intellectual Disability
Urinary incontinence ORPHA:777
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Urinary urgency ORPHA:171612
Spinocerebellar Ataxia Type 42
Urinary urgency, Urinary incontinence ORPHA:458803
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency OMIM:611390
Autosomal Dominant Centronuclear Myopathy
Exercise-induced myalgia, Urinary incontinence ORPHA:169189
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence OMIM:105210
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Marchiafava-Bignami Disease
Urinary incontinence ORPHA:221074
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Abnormality of the kidney, Fatigue, Gangrene, Bone pain, A... ORPHA:53721
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence OMIM:301041
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence OMIM:125310
Encephalitis Lethargica
Myalgia, Limb pain, Bowel incontinence, Urinary incontinence ORPHA:83600
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bowel incontinence, Urinary incontinence OMIM:618877
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Renal insufficiency, Acute kidney i... ORPHA:79233
Exstrophy-Epispadias Complex
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... ORPHA:322
Sandhoff Disease
Episodic abdominal pain, Exaggerated startle response, Urinary incontinence OMIM:268800
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Urinary incontinence ORPHA:98784
Adult Krabbe Disease
Urinary incontinence ORPHA:206448
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Urinary incontinence ORPHA:247234
Childhood Absence Epilepsy
Urinary incontinence ORPHA:64280
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stress urinary incontinence ORPHA:136
Arachnoiditis
Urinary bladder sphincter dysfunction, Fatigue, Arthralgia ORPHA:137817
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Bowel incontinence, Urinary incontinence OMIM:300243
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence ORPHA:88644
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Cog5-Cdg
Neurogenic bladder, Micropenis, Urinary incontinence ORPHA:263487
Spastic Paraplegia Type 2
Bowel incontinence, Spastic/hyperactive bladder ORPHA:99015
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence OMIM:618885
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Primary Progressive Freezing Gait
Urinary incontinence ORPHA:75567
Spinocerebellar Ataxia Type 8
Urinary incontinence ORPHA:98760
Metachromatic Leukodystrophy
Urinary incontinence OMIM:250100
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Pollakisuria, Bowel incontinence, Urinary incontinence ORPHA:171629
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Urinary incontinence OMIM:146500
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence ORPHA:300605
Amyotrophic Lateral Sclerosis 2, Juvenile
Urinary incontinence OMIM:205100
Epilepsy, Progressive Myoclonic, 10
Urinary incontinence OMIM:616640
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal insufficiency, Enuresis ... ORPHA:223
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Bowel incontinence, Urinary incontinence OMIM:617193
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Back pain, Abdominal pain, Lower limb pain, Sciatica, Urin... ORPHA:2356
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Bowel incontinence, Urinary incontinence ORPHA:496641
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence ORPHA:225147
Currarino Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Neurogenic bladder, ... OMIM:176450
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence ORPHA:309263
Metachromatic Leukodystrophy
Impaired continence, Limb pain, Bowel incontinence, Pain, Urinary incontinence ORPHA:512
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Intellectual Developmental Disorder, X-Linked 98
Steroid-dependent nephrotic syndrome, Urinary incontinence OMIM:300912
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Urinary incontinence ORPHA:309271
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence ORPHA:476126
Gitelman Syndrome
Myalgia, Renal tubular acidosis, Abdominal pain, Nocturia, Focal segmental glomerulosclerosis, Re... ORPHA:358
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Back pain, Allodynia, Abdominal pain ORPHA:51890
Neuroleptic Malignant Syndrome
Rigors, Myoglobinuria, Fatigue, Proteinuria, Acute kidney injury, Urinary incontinence ORPHA:94093
Central Diabetes Insipidus
Nocturia ORPHA:178029
Spastic Paraplegia Type 7
Urinary urgency, Lower limb pain ORPHA:99013
Malakoplakia
Dysuria, Abdominal pain, Hematuria, Urinary urgency, Urinary hesitancy, Chest pain, Proteinuria, ... ORPHA:556
Trigeminal Neuralgia
Ocular pain, Mandibular pain, Trigeminal neuralgia, Allodynia ORPHA:221091
Arnold-Chiari Malformation Type I
Neck pain, Urinary incontinence ORPHA:268882
Acute Transverse Myelitis
Urinary bladder sphincter dysfunction, Back pain, Fatigue, Urinary retention, Urinary incontinence ORPHA:139417
Split Cord Malformation
Back pain, Lower limb pain, Hypospadias, Renal duplication, Neurogenic bladder, Functional abnorm... ORPHA:573278
Glycogen Storage Disease Ii
Urinary incontinence, Exercise intolerance OMIM:232300
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence ORPHA:314404
Complex Regional Pain Syndrome
Limb pain, Allodynia ORPHA:83452
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... ORPHA:1031
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal... ORPHA:85450
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, Exaggerated startle response, Renal agenesis, Hypospadias, Grade III vesicoureteral refl... OMIM:619522
East Syndrome
Renal magnesium wasting, Renal sodium wasting, Enuresis, Abnormal urinary electrolyte concentrati... ORPHA:199343
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
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence OMIM:619934
Adnp Syndrome
Recurrent urinary tract infections, Urinary incontinence ORPHA:404448
Cockayne Syndrome
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Renal hypoplasia, Prote... ORPHA:191
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Iatrogenic Botulism
Urinary retention, Fatigue ORPHA:254509
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Spastic/hyperactive bladder ORPHA:100991
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polyuria, Hypocalciuria, Renal sodium wasting, Renal potassium wasting, Enuresis, Renal salt wasting OMIM:612780
Urachal Cyst
Dysuria, Abdominal pain, Urachus fistula, Hematuria, Pyuria, Chills ORPHA:488
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency OMIM:619621
Gitelman Syndrome
Abdominal pain, Polyuria, Hypocalciuria, Nocturia, Fatigue, Renal potassium wasting, Enuresis, Re... OMIM:263800
Inhalational Botulism
Urinary retention, Fatigue ORPHA:254504
Kufor-Rakeb Syndrome
Urinary incontinence, Fatigue, Bowel incontinence ORPHA:306674
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hip pain ORPHA:52430
Distal Monosomy 10Q
Functional abnormality of the bladder, Horseshoe kidney, Acute kidney injury, Enuresis, Vesicoure... ORPHA:96148
Meningioma
Back pain, Ear pain, Trigeminal neuralgia, Urinary incontinence ORPHA:2495
Botulism
Urinary retention, Fatigue, Abdominal pain ORPHA:1267
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Recurrent urinary tract infections, Enuresis OMIM:619293
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Urinary incontinence ORPHA:447997
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence OMIM:619482
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Abdominal pain, Flank pain, Fatigue, Hematuria, Renovascular hyperte... ORPHA:49041
Autosomal Recessive Spastic Paraplegia Type 9B
Urinary retention, Pollakisuria, Impaired continence ORPHA:447760
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:43
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Renal Fanconi syndrome, Organic aciduria, Proximal tubulopathy, M... OMIM:619743
Okamoto Syndrome
Ureteropelvic junction obstruction, Unilateral renal hypoplasia, Hydronephrosis, Urinary incontin... ORPHA:2729
Machado-Joseph Disease
Urinary bladder sphincter dysfunction, Chronic pain OMIM:109150
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence OMIM:234200
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis ORPHA:2953
Visceral Myopathy 1
Abdominal pain, Urinary retention, Hydronephrosis, Vesicoureteral reflux, Megacystis OMIM:155310
Friedreich Ataxia
Urinary bladder sphincter dysfunction, Impaired visually enhanced vestibulo-ocular reflex ORPHA:95
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Pelizaeus-Merzbacher Disease
Urinary urgency OMIM:312080
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Pollakisuria, Bowel incontinence, Myalgia ORPHA:93256
African Trypanosomiasis
Rigors, Fatigue, Renal insufficiency, Arthralgia, Urinary incontinence ORPHA:3385
Orthostatic Hypotension 1
Nocturia OMIM:223360
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Chest pain, Nocturia, Fatigue ORPHA:230
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction OMIM:164400
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Benign Schwannoma
Pain, Allodynia ORPHA:252164
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... ORPHA:261537
Mowat-Wilson Syndrome
Chordee, Micropenis, Abnormality of the kidney, Hypospadias, Multicystic kidney dysplasia, Renal ... ORPHA:2152
Citrullinemia Type Ii
Night sweats, Enuresis ORPHA:247585
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Bowel incontin... ORPHA:261552
Adult-Onset Autosomal Dominant Leukodystrophy
Myalgia, Urinary retention, Recurrent urinary tract infections, Urinary urgency ORPHA:99027
Alström Syndrome
Dysuria, Myalgia, Chronic kidney disease, Epigastric pain, Micropenis, Recurrent urinary tract in... ORPHA:64
Superficial Siderosis
Functional abnormality of the bladder, Back pain ORPHA:247245
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Allodynia, Abdominal pain OMIM:603041
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Enuresis, Hydronephrosis ORPHA:96121
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder ORPHA:411602
Autosomal Dominant Progressive External Ophthalmoplegia
Myalgia, Nocturia, Fatigue, Exercise intolerance ORPHA:254892
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension ORPHA:391487
Posterior Meningocele
Enuresis, Bowel incontinence ORPHA:268810
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Chronic pain, Abnormality of the u... ORPHA:79408
Sacral Defect With Anterior Meningocele
Urinary retention, Back pain, Neurogenic bladder OMIM:600145
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis ORPHA:369950
Parkinson Disease 14, Autosomal Recessive
Nocturia OMIM:612953
Williams-Beuren Syndrome
Bladder diverticulum, Micropenis, Recurrent urinary tract infections, Hypercalciuria, Sudden deat... OMIM:194050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micropenis, Unilateral renal agenesis, Urinary urgency, Pelvic kidney, Arthralgia 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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