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Gene: Cald1 MGI:88250

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Omphalocele
Omphalocele ORPHA:660
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
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Lower limb muscle weakness OMIM:613364
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy OMIM:258320
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary urgency, Leg muscle st... ORPHA:100985
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:605280
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness 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
Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:488594
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:607152
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:604805
Spastic Paraplegia 72, Autosomal Recessive
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
Inguinal hernia, Femoral hernia ORPHA:2917
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Interstitial Cystitis
Pollakisuria, Urinary urgency, Nocturia, Abnormality of the bladder, Urinary bladder inflammation... ORPHA:37202
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... ORPHA:100994
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, Lower ... OMIM:182600
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness OMIM:613096
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:600363
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia, Neonatal death OMIM:619602
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... OMIM:236730
X-Linked Immunoneurologic Disorder
Myopathy, Functional abnormality of the bladder ORPHA:2571
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:607565
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:604187
Rhiny
Inguinal hernia OMIM:180360
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Acalvaria
Omphalocele ORPHA:945
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:300266
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness OMIM:610357
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele OMIM:614450
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency, Distal lower limb muscle weakness, Distal lower limb amyot... ORPHA:444099
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:182601
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Trigonocephaly 1
Omphalocele OMIM:190440
Spinocerebellar Ataxia Type 25
Urinary urgency, Facial myokymia ORPHA:101111
Distal Trisomy 15Q
Camptodactyly of finger, Omphalocele ORPHA:1707
Bladder Exstrophy
Bladder exstrophy, Inguinal hernia, Omphalocele, Umbilical hernia ORPHA:93930
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness ORPHA:306511
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency, Lower limb amyotrophy, Hand muscle weakness ORPHA:320355
Paraparetic Variant Of Guillain-Barré Syndrome
Urinary bladder sphincter dysfunction ORPHA:231445
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Recurrent urinary tract infections ORPHA:284400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Diastasis recti, Umbilical hernia ORPHA:254534
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Lower limb hype... ORPHA:100984
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Skeletal muscle atrophy, Intri... ORPHA:3115
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Caudal Duplication
Omphalocele ORPHA:1756
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Omphalocele, Flexion contracture OMIM:263210
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:604360
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Urinary urgency, Nocturia, Urinary hesitancy OMIM:609727
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Peroneal muscle atrophy ORPHA:100989
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
Myopathy, Myofibrillar, 7
Urinary incontinence, Increased variability in muscle fiber diameter, Flexion contracture, Enures... OMIM:617114
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Isolated Epispadias
Urinary incontinence, Vesicoureteral reflux, Epispadias, Anteriorly displaced urethral meatus ORPHA:93928
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Distal lower limb amyotrophy, Hand muscle atrophy, Urinary urgency, Distal ... OMIM:606071
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele OMIM:618316
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis OMIM:606995
Kagami-Ogata Syndrome
Inguinal hernia, Omphalocele, Flexion contracture, Diastasis recti OMIM:608149
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:607259
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Umbilical hernia, Death in infancy ORPHA:2241
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Inguinal hernia, ... ORPHA:254528
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... ORPHA:93598
Autosomal Recessive Spastic Paraplegia Type 15
Distal amyotrophy, Upper limb muscle weakness, Functional abnormality of the bladder, Leg muscle ... ORPHA:100996
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention ORPHA:2795
Spastic Paraplegia Type 7
Lower limb muscle weakness, Urinary urgency, Upper limb muscle weakness, Ragged-red muscle fibers... ORPHA:99013
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency, Lower limb muscle weakness ORPHA:171612
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele OMIM:617895
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Developmental And Epileptic Encephalopathy 89
Omphalocele, Neonatal death, Death in childhood, Flexion contracture OMIM:619124
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele, Death in childhood, Death in infancy OMIM:243150
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:270700
Autosomal Dominant Spastic Paraplegia Type 10
Upper limb amyotrophy, Distal lower limb amyotrophy, Lower limb muscle weakness, Urinary urgency,... ORPHA:100991
Fibrochondrogenesis 1
Joint contracture of the hand, Omphalocele, Camptodactyly, Stillbirth OMIM:228520
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele ORPHA:261344
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness ORPHA:100999
Familial Renal Glucosuria
Recurrent urinary tract infections, Glycosuria, Nephropathy, Enuresis, Renal tubular dysfunction ORPHA:69076
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:222448
Spastic Paraplegia 84, Autosomal Recessive
Knee flexion contracture, Hip contracture, Lower limb muscle weakness, Urinary urgency, Leg muscl... OMIM:619621
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventral hernia OMIM:313850
Carpenter Syndrome 1
Joint contracture of the hand, Omphalocele, Camptodactyly, Umbilical hernia OMIM:201000
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Acute kidney injury, Dysuria, Nephropathy, Macroscopic hematuria, Rena... ORPHA:79233
Duplication Of Urethra
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... ORPHA:237
Triploidy
Omphalocele ORPHA:3376
Foix-Alajouanine Syndrome
Urinary incontinence, Urinary retention, Neurogenic bladder, Lower limb muscle weakness, Distal l... ORPHA:79093
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Nephrogenic Diabetes Insipidus
Hyposthenuria, Enuresis nocturna, Hydroureter, Renal insufficiency, Functional abnormality of the... ORPHA:223
Constricting Bands, Congenital
Bladder exstrophy, Omphalocele, Gastroschisis OMIM:217100
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Ventral hernia, Camptodactyly OMIM:618529
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency OMIM:204690
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Hernia, Inguinal hernia, Congenital diaphragmatic herni... ORPHA:2092
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Upper limb muscle weakness, Distal lower limb amyotrophy, Lower limb muscle weak... OMIM:609195
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Chromosome 9P Deletion Syndrome
Inguinal hernia, Omphalocele OMIM:158170
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Chromosome 10Q26 Deletion Syndrome
Omphalocele OMIM:609625
Melnick-Needles Syndrome
Omphalocele ORPHA:2484
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Spinocerebellar Ataxia 25
Urinary urgency, Facial myokymia OMIM:608703
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness ORPHA:100993
Teebi Hypertelorism Syndrome 1
Omphalocele OMIM:145420
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Camptodactyly, Abnormality of the abdominal wall, Inguinal hernia,... OMIM:247200
Mosaic Trisomy 1
Camptodactyly of finger, Omphalocele, Elbow flexion contracture, Congenital diaphragmatic hernia ORPHA:1692
Vacterl/Vater Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Omphalocele, Neonatal death OMIM:269860
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele ORPHA:2021
C Syndrome
Omphalocele OMIM:211750
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Urinary bla... ORPHA:52430
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Omphalocele, Congenital diaphragmatic hernia, Umbilical hernia OMIM:618454
Spastic Paraplegia Type 2
Spastic/hyperactive bladder ORPHA:99015
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Stillbirth OMIM:616300
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Lethal Congenital Contracture Syndrome 10
Omphalocele OMIM:617022
Kagami-Ogata Syndrome
Inguinal hernia, Omphalocele, Diastasis recti ORPHA:254519
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Omphalocele ORPHA:1335
Central Diabetes Insipidus
Nocturia ORPHA:178029
Fryns Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2059
East Syndrome
Lower limb muscle weakness, Renal sodium wasting, Renal salt wasting, Abnormal urinary electrolyt... ORPHA:199343
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele, Hernia ORPHA:3380
Pure Autonomic Failure
Dysuria, Urinary incontinence ORPHA:441
Pseudotrisomy 13 Syndrome
Omphalocele OMIM:264480
Cloacal Exstrophy
Bladder exstrophy, Omphalocele, Cloacal exstrophy ORPHA:93929
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Opitz Gbbb Syndrome
Inguinal hernia, Omphalocele, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:2745
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Urinary bladder sphincter dysfunction ORPHA:53721
Marshall-Smith Syndrome
Omphalocele, Death in childhood, Umbilical hernia OMIM:602535
Alexander Disease Type Ii
Limb muscle weakness, Urinary bladder sphincter dysfunction ORPHA:363722
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... ORPHA:85450
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Death in infancy, ... ORPHA:373
Pandas
Enuresis ORPHA:66624
3Mc Syndrome 1
Omphalocele, Diastasis recti, Abnormality of the abdominal wall OMIM:257920
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Omphalocele ORPHA:90652
Pagod Syndrome
Congenital diaphragmatic hernia, Omphalocele, Death in infancy ORPHA:991
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Camptodactyly OMIM:616894
Bartsocas-Papas Syndrome 1
Flexion contracture, Inguinal hernia, Omphalocele, Inferiorly positioned umbilicus, Arthrogryposi... OMIM:263650
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Omphalocele, Camptodactyly, Flexion contracture of toe OMIM:300373
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Flexion contracture, Generalized limb muscle atrophy, Leg muscle stiffness, Spastic/hyperactive b... ORPHA:137898
Cln3 Disease
Left ventricular hypertrophy, Urinary bladder sphincter dysfunction ORPHA:228346
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diastasis recti OMIM:618419
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency OMIM:601338
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita ORPHA:63259
Alg9-Cdg
Lipodystrophy, Omphalocele ORPHA:79328
Codas Syndrome
Enamel hypoplasia, Omphalocele OMIM:600373
Fryns Syndrome
Joint contracture of the hand, Camptodactyly, Stillbirth, Omphalocele, Aplasia of the left hemidi... OMIM:229850
Adrenoleukodystrophy
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness OMIM:300100
Holoprosencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:2162
Melnick-Needles Syndrome
Omphalocele, Stillbirth OMIM:309350
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia ORPHA:2166
Distal Monosomy 10Q
Vesicoureteral reflux, Acute kidney injury, Facial diplegia, Scapular winging, Horseshoe kidney, ... ORPHA:96148
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy ORPHA:556
Autosomal Recessive Spastic Paraplegia Type 77
Urinary incontinence, Lower limb amyotrophy, Detrusor sphincter dyssynergia, Neurogenic bladder ORPHA:466722
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Blepharophimosis-Impaired Intellectual Development Syndrome
Enuresis, Hypospadias, Flexion contracture, Recurrent urinary tract infections OMIM:619293
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Medullary... OMIM:619743
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Elevated urinary delta-aminolevulinic acid, Urinary retention OMIM:176000
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency OMIM:603516
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Leg muscle stiffness, Neurogenic bladder ORPHA:43
Spinocerebellar Ataxia Type 13
Urinary incontinence, Urinary urgency, Torticollis ORPHA:98768
Exstrophy-Epispadias Complex
Abdominal wall defect, Abnormality of the abdominal wall, Inguinal hernia, Cystocele, Bladder exs... ORPHA:322
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Urinary urgency, Generalized amyotrophy OMIM:601162
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Neonatal death, Diastasis recti OMIM:265380
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Diastasis recti, Flexion contracture, Camptodactyly, Miscarriage, Hernia of the abdominal wall, I... ORPHA:96334
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Omphalocele, Umbilical hernia ORPHA:920
Spinocerebellar Ataxia 2
Urinary incontinence, Urinary bladder sphincter dysfunction, Distal amyotrophy OMIM:183090
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Arthrogryposis multiplex congenita, Myopathy, Horseshoe kidney, Nephrolith... ORPHA:2953
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency OMIM:609270
C Syndrome
Omphalocele, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculatur... ORPHA:1308
Gitelman Syndrome
Rhabdomyolysis, Nocturia, Polyuria, Hypocalciuria, Renal magnesium wasting, Enuresis, Renal potas... OMIM:263800
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Urinary urgency, Pollakisuria, Lower limb hypertonia ORPHA:447753
Esophageal Atresia
Omphalocele ORPHA:1199
Cardiac Diverticulum
Omphalocele, Diastasis recti, Abdominal wall defect, Umbilical hernia ORPHA:1686
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal sodium wasting, Renal salt wasting, Polyuria, Hypocalciuria, Enuresis, Renal potassium wasting OMIM:612780
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Focal Dermal Hypoplasia
Enamel hypoplasia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hern... OMIM:305600
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Inguinal hernia, Omphalocele, Neonatal death, Death in childhood, Umbilical hernia OMIM:308205
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Abnormality of the kidney, Camptodactyly, Enuresis ORPHA:459061
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency, Distal amyotrophy, Peroneal muscle atrophy OMIM:270550
Spinocerebellar Ataxia Type 42
Urinary incontinence, Urinary urgency ORPHA:458803
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele ORPHA:436252
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Facial hypotonia ORPHA:589821
Orthostatic Hypotension 1
Weakness of facial musculature, Nocturia OMIM:223360
Adrenomyeloneuropathy
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Urinary urgency, ... ORPHA:139399
Beckwith-Wiedemann Syndrome
Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:116
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele ORPHA:3186
Meckel Syndrome, Type 1
Camptodactyly of finger, Omphalocele OMIM:249000
Oeis Complex
Bladder exstrophy, Omphalocele, Cloacal exstrophy OMIM:258040
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Machado-Joseph Disease
Distal amyotrophy, Urinary bladder sphincter dysfunction OMIM:109150
Visceral Myopathy 1
Vesicoureteral reflux, Hydronephrosis, Urinary retention, Megacystis OMIM:155310
Spinocerebellar Ataxia 1
Distal amyotrophy, Skeletal muscle atrophy, Urinary bladder sphincter dysfunction OMIM:164400
Perineural Cyst
Urinary incontinence, Urinary bladder sphincter dysfunction, Distal lower limb muscle weakness, R... ORPHA:65250
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Holoprosencephaly 7
Omphalocele OMIM:610828
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Ablepharon-Macrostomia Syndrome
Omphalocele, Ventral hernia, Camptodactyly OMIM:200110
Fraser Syndrome
Omphalocele, Umbilical hernia, Death in infancy ORPHA:2052
Heterotaxy, Visceral, 1, X-Linked
Omphalocele OMIM:306955
Urachal Cyst
Dysuria, Pyuria, Hematuria, Urachus fistula ORPHA:488
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti OMIM:130650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Inguinal hernia, Omphalocele, Abnormal dental enamel morphology ORPHA:2273
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth OMIM:236680
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Omphalocele, Elbow contracture, Stillbirth OMIM:304120
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Urinary urgency, Skeletal muscle atrophy OMIM:146500
Pelizaeus-Merzbacher Disease
Urinary urgency OMIM:312080
Autosomal Dominant Progressive External Ophthalmoplegia
Shoulder girdle muscle weakness, Left ventricular hypertrophy, Nocturia, Hypomimic face, EMG: myo... ORPHA:254892
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Okamoto Syndrome
Omphalocele ORPHA:2729
Tenorio Syndrome
Enuresis, Macroglossia OMIM:616260
Split Cord Malformation
Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Hypo... ORPHA:573278
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Friedreich Ataxia
Urinary bladder sphincter dysfunction, Hand muscle atrophy ORPHA:95
Arachnoid Cyst
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Facial p... ORPHA:2356
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated urinary dopamine ORPHA:230
Charge Syndrome
Omphalocele, Umbilical hernia OMIM:214800
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Rhabdomyolysis, Noctu... ORPHA:358
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Spastic/hyperactive bladder ORPHA:411602
Citrullinemia Type Ii
Enuresis ORPHA:247585
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Pollakisuria ORPHA:93256
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary urgency, Flexion contracture, Urinary retention, Recurrent urinary tract infections ORPHA:99027
Pallister-Killian Syndrome
Enamel hypoplasia, Flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Stillbi... OMIM:601803
Superficial Siderosis
Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:247245
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Congenital diaphragmatic hernia, Hypospadias, Enuresis, Hydronephrosis ORPHA:96121
Acute Transverse Myelitis
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Distal lower limb... ORPHA:139417
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele ORPHA:93271
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
Foot joint contracture, IgA deposition in the glomerulus, Flexion contracture, Urinary bladder sp... ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis, Macroglossia ORPHA:369950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Renal agenesis, Urethral stricture, Hypospadias, Grade III vesicoureteral r... OMIM:619522
Posterior Meningocele
Enuresis ORPHA:268810
Parkinson Disease 14, Autosomal Recessive
Hypomimic face, Nocturia OMIM:612953
Williams-Beuren Syndrome
Vesicoureteral reflux, Flexion contracture, Recurrent urinary tract infections, Nephrocalcinosis,... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Knee flexion contracture, Flexion contracture, Hip contracture, Diaphragmatic eventration, Urinar... OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Urinary retention, Recurrent urinary... 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.

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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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