Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
caldesmon 1
Synonyms:
C920027I18Rik,  4833423D12Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cald1 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 Cald1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Omphalocele, Autosomal
Omphalocele OMIM:164750
Omphalocele, X-Linked
Omphalocele OMIM:310980
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Omphalocele
Omphalocele ORPHA:660
Spastic Paraplegia 41, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency OMIM:613364
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita OMIM:611369
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, Urinary urgency, ... ORPHA:100985
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:605280
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Urinary urgency OMIM:610250
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:604805
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia ORPHA:2917
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... ORPHA:100994
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Pollakisuria, Vesicoureteral reflux, Congenital posterior urethral valve, U... OMIM:618612
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ... OMIM:236730
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Distal lower limb a... OMIM:182600
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary urgency OMIM:613096
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:600363
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Omphalocele OMIM:275100
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Inguinal hernia OMIM:619602
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Myopathy ORPHA:2571
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:607565
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:604187
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Rhiny
Inguinal hernia OMIM:180360
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary urgency, Urinary bladder s... OMIM:300266
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Urinary incontinence, Urinary ur... ORPHA:444099
Acalvaria
Omphalocele ORPHA:945
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Hand muscle weakness, Urinary urgency ORPHA:320355
Interstitial Cystitis
Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the... ORPHA:37202
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction OMIM:610357
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele OMIM:614450
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:182601
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Umbilical hernia, Joint contracture of the hand OMIM:175700
Trigonocephaly 1
Omphalocele OMIM:190440
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Spinocerebellar Ataxia Type 25
Facial myokymia, Urinary urgency ORPHA:101111
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Distal Duplication 15Q
Camptodactyly of finger, Omphalocele ORPHA:1707
Bladder Exstrophy
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy ORPHA:93930
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction ORPHA:306511
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Diastasis recti, Omphalocele ORPHA:254534
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb hypertonia, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary u... ORPHA:100984
Roussy-Lévy Syndrome
Distal amyotrophy, Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Skeletal... ORPHA:3115
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Urinary incontinence, Lower limb muscle weakness, Urinary urgency ORPHA:100989
Caudal Duplication
Omphalocele ORPHA:1756
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Omphalocele OMIM:263210
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb muscle weakness, Urinary urgency ORPHA:171612
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency OMIM:609727
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Thenar muscle atrop... OMIM:604360
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
Myopathy, Myofibrillar, 7
Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion contracture,... OMIM:617114
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:206583
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Urinary incontinence, Dysuria, Abnormality of the urethra ORPHA:2795
Isolated Epispadias
Epispadias, Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoureteral reflux ORPHA:93928
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:607259
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele OMIM:618316
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Diastasis recti, Wrist flexion contracture, Camptodactyly, Omphalocele, Flexion ... ORPHA:254528
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tra... ORPHA:93598
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Urinary incontinence, Di... OMIM:606071
Kagami-Ogata Syndrome
Diastasis recti, Flexion contracture, Inguinal hernia, Omphalocele OMIM:608149
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Urinary urgency, Lower limb hypertonia, Low... ORPHA:99013
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Death in infancy, Omphalocele ORPHA:2241
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder, Distal amyotrophy, Upper limb muscle weakness, Leg muscle ... ORPHA:100996
Auriculocondylar Syndrome 2B
Omphalocele OMIM:620458
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb amyotrophy, Lower limb muscle weakness, Urinary urgency ORPHA:100999
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur... ORPHA:79233
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele OMIM:617895
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Developmental And Epileptic Encephalopathy 89
Death in childhood, Flexion contracture, Neonatal death, Omphalocele OMIM:619124
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Enamel hypoplasia, Death in childhood, Omphalocele OMIM:243150
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Distal amyotrophy, Urinary urgency, Urinary bladder sphincter dysfunction, ... OMIM:270700
Autosomal Dominant Spastic Paraplegia Type 10
Dupuytren contracture, Leg muscle stiffness, Urinary urgency, Upper limb amyotrophy, Spastic/hype... ORPHA:100991
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Camptodactyly, Omphalocele OMIM:618529
Fibrochondrogenesis 1
Stillbirth, Omphalocele, Camptodactyly, Joint contracture of the hand OMIM:228520
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Omphalocele ORPHA:261344
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:222448
Spastic Paraplegia 84, Autosomal Recessive
Ankle flexion contracture, Leg muscle stiffness, Urinary urgency, Hip contracture, Knee flexion c... OMIM:619621
Carpenter Syndrome 1
Joint contracture of the hand, Omphalocele, Camptodactyly, Umbilical hernia OMIM:201000
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Omphalocele OMIM:313850
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Urinary incontinence, Lower limb muscle weakness, Urinary urgency ORPHA:100993
Foix-Alajouanine Syndrome
Distal lower limb muscle weakness, Urinary incontinence, Neurogenic bladder, Functional abnormali... ORPHA:79093
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Triploidy
Omphalocele ORPHA:3376
Constricting Bands, Congenital
Bladder exstrophy, Gastroschisis, Omphalocele OMIM:217100
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Inguinal hernia, Abnormal de... ORPHA:2092
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Lower limb muscle weakness, Upper limb muscle weakness, Urinary urg... OMIM:609195
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Chromosome 9P Deletion Syndrome
Inguinal hernia, Omphalocele OMIM:158170
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Teebi Hypertelorism Syndrome 1
Omphalocele OMIM:145420
Chromosome 10Q26 Deletion Syndrome
Omphalocele OMIM:609625
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Spinocerebellar Ataxia 25
Facial myokymia, Urinary urgency OMIM:608703
Melnick-Needles Syndrome
Omphalocele ORPHA:2484
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Camptodactyly, Omphalocele, Abnormality of the abdominal wall, Joint contracture... OMIM:247200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Short-Rib Thoracic Dysplasia 12
Neonatal death, Inguinal hernia, Omphalocele OMIM:269860
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Camptodactyly of finger, Elbow flexion contracture, Omphalocele ORPHA:1692
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Vacterl/Vater Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele ORPHA:2021
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Omphalocele, Inguinal hernia, Umbilical hernia OMIM:618454
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, EMG: myopathic abnormalities, Urinary bladder sphincter dysfunction, Increased v... ORPHA:52430
Central Diabetes Insipidus
Nocturia ORPHA:178029
C Syndrome
Omphalocele OMIM:211750
Spastic Paraplegia Type 2
Spastic/hyperactive bladder ORPHA:99015
Spastic Ataxia 3, Autosomal Recessive
Neurogenic bladder, Urinary urgency OMIM:611390
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Omphalocele OMIM:616300
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
East Syndrome
Renal salt wasting, Enuresis, Renal sodium wasting, Renal magnesium wasting, Abnormal urinary ele... ORPHA:199343
Lethal Congenital Contracture Syndrome 10
Omphalocele OMIM:617022
Spastic Paraplegia 20, Autosomal Recessive
Distal amyotrophy, Camptodactyly, Urinary urgency, Flexion contracture, Lower limb muscle weakness OMIM:275900
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Omphalocele ORPHA:1335
Fryns Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2059
Pandas
Enuresis ORPHA:66624
Pure Autonomic Failure
Urinary incontinence, Dysuria ORPHA:441
Cloacal Exstrophy
Bladder exstrophy, Cloacal exstrophy, Omphalocele ORPHA:93929
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
Trisomy 18
Congenital diaphragmatic hernia, Camptodactyly of finger, Hernia, Omphalocele ORPHA:3380
Pseudotrisomy 13 Syndrome
Omphalocele OMIM:264480
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Omphalocele, Inguinal hernia, Umbilical hernia ORPHA:2745
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Marshall-Smith Syndrome
Omphalocele, Death in childhood, Umbilical hernia OMIM:602535
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Urinary bladder sphincter dysfunction ORPHA:53721
Alexander Disease Type Ii
Limb muscle weakness, Urinary bladder sphincter dysfunction ORPHA:363722
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... ORPHA:85450
Narcolepsy Type 1
Nocturia ORPHA:2073
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:373
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Bartsocas-Papas Syndrome 1
Inguinal hernia, Omphalocele, Inferiorly positioned umbilicus, Flexion contracture, Arthrogryposi... OMIM:263650
3Mc Syndrome 1
Abnormality of the abdominal wall, Diastasis recti, Omphalocele OMIM:257920
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Omphalocele ORPHA:90652
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Flexion contracture, Generalized limb muscle atrophy, Spastic/hyperactive bladder, Leg muscle sti... ORPHA:137898
Pagod Syndrome
Congenital diaphragmatic hernia, Death in infancy, Omphalocele ORPHA:991
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Omphalocele OMIM:616894
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Urinary bladder inflammation ORPHA:556
Adrenoleukodystrophy
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction OMIM:300100
Fryns Syndrome
Stillbirth, Aplasia of the left hemidiaphragm, Camptodactyly, Omphalocele, Joint contracture of t... OMIM:229850
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Flexion contracture of toe, Camptodactyly, Joint contracture of the hand OMIM:300373
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Omphalocele OMIM:618419
Codas Syndrome
Enamel hypoplasia, Omphalocele OMIM:600373
Iniencephaly
Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele ORPHA:63259
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb amyotrophy, Detrusor sphincter dyssynergia, Neurogenic bladder, Urinary incontinence ORPHA:466722
Distal Deletion 10Q
Acute kidney injury, Vesicoureteral reflux, Facial diplegia, Scapular winging, Enuresis, Function... ORPHA:96148
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Melnick-Needles Syndrome
Stillbirth, Omphalocele OMIM:309350
Holoprosencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:2162
Alg9-Cdg
Lipodystrophy, Omphalocele ORPHA:79328
Pudendal Neuralgia
Pollakisuria, Dysuria ORPHA:60039
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Proximal tubulopathy, Type 2 muscle fiber predominance, Organic a... OMIM:619743
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia ORPHA:2166
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Leg muscle stiffness, Urinary bladder sphincter dysfunction ORPHA:43
Spinal Cord Injury
Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary incontinence, Dysuria OMIM:176000
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Recurrent urinary tract infections, Hypospadias, Enuresis OMIM:619293
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency OMIM:603516
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency OMIM:601338
Spinocerebellar Ataxia Type 13
Urinary incontinence, Torticollis, Urinary urgency ORPHA:98768
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Exstrophy-Epispadias Complex
Inguinal hernia, Omphalocele, Bladder exstrophy, Cystocele, Abnormality of the abdominal wall, Cl... ORPHA:322
Spastic Paraplegia 9A, Autosomal Dominant
Generalized amyotrophy, Urinary incontinence, Urinary urgency OMIM:601162
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Omphalocele, Umbilical hernia ORPHA:920
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Decreased muscle mass, Ar... ORPHA:2953
Spinocerebellar Ataxia 2
Distal amyotrophy, Urinary incontinence, Urinary bladder sphincter dysfunction OMIM:183090
Cardiac Diverticulum
Diastasis recti, Omphalocele, Abdominal wall defect, Umbilical hernia ORPHA:1686
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Diastasis recti, Camptodactyly, Omphalocele, Interphalangeal joint contracture of fi... ORPHA:96334
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Diastasis recti, Omphalocele OMIM:265380
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency OMIM:609270
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Persistent cloaca OMIM:615709
Autosomal Dominant Spastic Paraplegia Type 9A
Lower limb hypertonia, Pollakisuria, Urinary incontinence, Urinary urgency ORPHA:447753
Esophageal Atresia
Omphalocele ORPHA:1199
C Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Death in i... ORPHA:1308
Gitelman Syndrome
Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Rhabdomyolysis, Nocturia, Renal magne... OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Renal sodium wasting OMIM:612780
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Camptodactyly, Enuresis ORPHA:459061
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Spinocerebellar Ataxia Type 42
Urinary incontinence, Urinary urgency ORPHA:458803
Spastic Ataxia, Charlevoix-Saguenay Type
Distal amyotrophy, Peroneal muscle atrophy, Urinary urgency OMIM:270550
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Diastasis recti, Omphalocele, Enamel hypoplasia... OMIM:305600
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Facial hypotonia ORPHA:589821
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele ORPHA:436252
Adrenomyeloneuropathy
Distal lower limb muscle weakness, Urinary incontinence, Urinary urgency, Leg muscle stiffness, U... ORPHA:139399
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Diastasis recti, Omphalocele, Umbilical hernia ORPHA:116
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele ORPHA:3186
Oeis Complex
Bladder exstrophy, Cloacal exstrophy, Omphalocele OMIM:258040
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Machado-Joseph Disease
Distal amyotrophy, Urinary bladder sphincter dysfunction OMIM:109150
Meckel Syndrome, Type 1
Camptodactyly of finger, Omphalocele OMIM:249000
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in childhood, Inguinal hernia, Death in infancy, Omphalocele, Neonatal death, Umbilical hernia OMIM:308205
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Spinocerebellar Ataxia 1
Distal amyotrophy, Skeletal muscle atrophy, Urinary bladder sphincter dysfunction OMIM:164400
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Urachal Cyst
Urachus fistula, Dysuria, Hematuria, Pyuria ORPHA:488
Heterotaxy, Visceral, 1, X-Linked
Omphalocele OMIM:306955
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Skeletal muscle atrophy, Urinary urgency OMIM:146500
Holoprosencephaly 7
Omphalocele OMIM:610828
Ablepharon-Macrostomia Syndrome
Ventral hernia, Camptodactyly, Omphalocele OMIM:200110
Orthostatic Hypotension 1
Nocturia, Weakness of facial musculature OMIM:223360
Charge Syndrome
Omphalocele, Umbilical hernia ORPHA:138
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Beckwith-Wiedemann Syndrome
Diastasis recti, Omphalocele OMIM:130650
Pelizaeus-Merzbacher Disease
Urinary urgency OMIM:312080
Hydrolethalus Syndrome 1
Stillbirth, Omphalocele OMIM:236680
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocele ORPHA:2273
Otopalatodigital Syndrome, Type Ii
Stillbirth, Omphalocele, Elbow contracture, Umbilical hernia OMIM:304120
Fraser Syndrome
Death in infancy, Omphalocele, Umbilical hernia ORPHA:2052
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Tenorio Syndrome
Macroglossia, Enuresis OMIM:616260
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, EMG: myopathic abnormali... ORPHA:254892
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Okamoto Syndrome
Omphalocele ORPHA:2729
Friedreich Ataxia
Hand muscle atrophy, Urinary bladder sphincter dysfunction ORPHA:95
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Arachnoid Cyst
Facial palsy, Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunc... ORPHA:2356
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Nocturia ORPHA:230
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Stillbirth, Inguinal hernia, Camptodactyly of 2nd-5th fingers, O... OMIM:601803
Charge Syndrome
Omphalocele, Umbilical hernia OMIM:214800
Citrullinemia Type Ii
Enuresis ORPHA:247585
Gitelman Syndrome
Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Focal segmental glomerulos... ORPHA:358
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction ORPHA:93256
Superficial Siderosis
Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:247245
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Spastic/hyperactive bladder ORPHA:411602
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Urinary retention, Flexion contracture, Urinary urgency ORPHA:99027
Acute Transverse Myelitis
Distal lower limb muscle weakness, Urinary incontinence, Upper limb muscle weakness, Urinary blad... ORPHA:139417
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Unilateral renal agenesis, Hypospadias, Enuresis, Hydronephrosis ORPHA:96121
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Foot joint contracture, Abnormality of the urinary system, Urinary bladde... ORPHA:79408
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele ORPHA:93271
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renovascular hypertension, Renal artery stenosis ORPHA:391487
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Enuresis ORPHA:369950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena... OMIM:619522
Parkinson Disease 14, Autosomal Recessive
Hypomimic face, Nocturia OMIM:612953
Isolated Posterior Meningocele
Enuresis ORPHA:268810
Williams-Beuren Syndrome
Renal insufficiency, Hypercalciuria, Pelvic kidney, Abnormal renal morphology, Vesicoureteral ref... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Pelvic kidney, Elbow flexion contracture, Urinary urgency, Hip contrac... OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Alström Syndrome
Detrusor sphincter dyssynergia, Urinary incontinence, Recurrent urinary tract infections, Dysuria... ORPHA:64

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 Cald1

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 Cald1.

No publications found that use IMPC mice or data for Cald1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cald1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cald1tm37365(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cald1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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