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Gene: Cald1 MGI:88250

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.

Human diseases associated with Cald1 (0 diseases)
Human diseases predicted to be associated with Cald1 (308 diseases)

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	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	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Death in infancy	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	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures	OMIM:611369
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, ...	ORPHA:100985
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:605280
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency, Skeletal muscle atrophy, Distal amyotrophy, 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 urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:607152
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:604805
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Polydactyly-Myopia Syndrome	Inguinal hernia, Femoral hernia	ORPHA:2917
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	ORPHA:100994
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Lower limb muscle weakness, Urinary incontinence	OMIM:613096
Spastic Paraplegia 3, Autosomal Dominant	Distal lower limb amyotrophy, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dy...	OMIM:182600
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Spastic Paraplegia 8, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:600363
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Persistent Mullerian Duct Syndrome, Types I And Ii	Inguinal hernia	OMIM:261550
X-Linked Immunoneurologic Disorder	Myopathy, Functional abnormality of the bladder	ORPHA:2571
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:607565
Spastic Paraplegia 10, Autosomal Dominant	Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Lower limb hypertonia, Urinary...	OMIM:604187
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Rhiny	Inguinal hernia	OMIM:180360
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Miller-Dieker Syndrome	Omphalocele	ORPHA:531
Vesicoureteral Reflux, X-Linked	Vesicoureteral reflux	OMIM:314550
Vesicoureteral Reflux 1	Vesicoureteral reflux	OMIM:193000
Spastic Paraplegia 16, X-Linked	Facial hypotonia, Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Urinary bladder s...	OMIM:300266
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Inguinal hernia	OMIM:619602
Acalvaria	Omphalocele	ORPHA:945
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Spastic Paraplegia 30, Autosomal Dominant	Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness	OMIM:610357
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia	OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele	OMIM:614450
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:1263
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Urinary incontinence, Urinary ur...	ORPHA:444099
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Spastic Paraplegia 4, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:182601
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Trigonocephaly 1	Omphalocele	OMIM:190440
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:2143
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger	ORPHA:1707
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Spinocerebellar Ataxia Type 25	Urinary urgency, Facial myokymia	ORPHA:101111
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence	ORPHA:306511
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele	ORPHA:93267
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Umbilical hernia, Diastasis recti	ORPHA:254534
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	Hematuria, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb amyotrophy, Lower limb hypertonia, Distal lower limb muscle weakness, Urinary u...	ORPHA:100984
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Distal amyotrophy, Urinary bladder sphinc...	ORPHA:3115
Caudal Duplication	Omphalocele	ORPHA:1756
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele	OMIM:601357
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Urinary urgency, Urinary bl...	OMIM:604360
Spastic Paraplegia 29, Autosomal Dominant	Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia	OMIM:609727
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Lower limb muscle weakness, Urinary incontinence, Peroneal muscle atrophy	ORPHA:100989
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder	ORPHA:71211
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc...	OMIM:617114
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Isolated Epispadias	Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence	ORPHA:93928
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Urina...	OMIM:606071
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence	ORPHA:2795
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Urinary incontinence	ORPHA:320365
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Lower limb hypertonia, Upper l...	OMIM:607259
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Camptodactyly, Umbilical hern...	ORPHA:254528
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
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
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Flexion contracture, Diastasis recti	OMIM:608149
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Umbilical hernia, Death in infancy	ORPHA:2241
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
Autosomal Recessive Spastic Paraplegia Type 15	Upper limb muscle weakness, Distal amyotrophy, Functional abnormality of the bladder, Leg muscle ...	ORPHA:100996
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Lower limb muscle weakness	ORPHA:171612
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63260
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture, Neonatal death, Death in childhood	OMIM:619124
Persistent Müllerian Duct Syndrome	Inguinal hernia	ORPHA:2856
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele	OMIM:617895
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele	OMIM:601927
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Death in infancy, Enamel hypoplasia, Death in childhood	OMIM:243150
Meckel Syndrome, Type 2	Omphalocele	OMIM:603194
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Urinary urgency, Distal amyotrophy, Urinary bladder sphincter dysfunction, ...	OMIM:270700
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo...	ORPHA:100991
Familial Renal Glucosuria	Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy	ORPHA:69076
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele	ORPHA:2736
Trisomy 1Q	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:261344
Fibrochondrogenesis 1	Omphalocele, Stillbirth, Joint contracture of the hand, Camptodactyly	OMIM:228520
Spastic Paraplegia 84, Autosomal Recessive	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Leg muscle...	OMIM:619621
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele	ORPHA:3035
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness	ORPHA:100999
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia	OMIM:222448
Thoracoabdominal Syndrome	Omphalocele, Congenital diaphragmatic hernia, Ventral hernia	OMIM:313850
Carpenter Syndrome 1	Omphalocele, Umbilical hernia, Joint contracture of the hand, Camptodactyly	OMIM:201000
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia	ORPHA:1834
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i...	ORPHA:79233
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Camptodactyly	OMIM:618529
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence	OMIM:616795
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Functional abnormality of...	ORPHA:79093
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Triploidy	Omphalocele	ORPHA:3376
Constricting Bands, Congenital	Omphalocele, Bladder exstrophy, Gastroschisis	OMIM:217100
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,...	ORPHA:2092
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Urinary incontinence	OMIM:612319
Spastic Paraplegia 26, Autosomal Recessive	Upper limb muscle weakness, Lower limb muscle weakness, Urinary urgency, Distal lower limb amyotr...	OMIM:609195
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia	OMIM:158170
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
Melnick-Needles Syndrome	Omphalocele	ORPHA:2484
Spinocerebellar Ataxia 25	Urinary urgency, Facial myokymia	OMIM:608703
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence	ORPHA:100993
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Camptodactyly, Joint contracture...	OMIM:247200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele	ORPHA:371428
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Neonatal death	OMIM:269860
Mosaic Trisomy 1	Omphalocele, Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1692
Vacterl/Vater Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:887
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger	ORPHA:2021
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib...	ORPHA:52430
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	OMIM:618454
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
C Syndrome	Omphalocele	OMIM:211750
Central Diabetes Insipidus	Nocturia	ORPHA:178029
Spastic Paraplegia Type 2	Spastic/hyperactive bladder	ORPHA:99015
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Stillbirth	OMIM:616300
Lethal Congenital Contracture Syndrome 10	Omphalocele	OMIM:617022
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder	OMIM:611390
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration...	ORPHA:199343
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti	ORPHA:254519
Pentalogy Of Cantrell	Omphalocele, Congenital diaphragmatic hernia	ORPHA:1335
Spastic Paraplegia 20, Autosomal Recessive	Flexion contracture, Urinary urgency, Distal amyotrophy, Camptodactyly, Lower limb muscle weakness	OMIM:275900
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2059
Trisomy 18	Omphalocele, Hernia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:3380
Pure Autonomic Failure	Dysuria, Urinary incontinence	ORPHA:441
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Pseudotrisomy 13 Syndrome	Omphalocele	OMIM:264480
Cloacal Exstrophy	Omphalocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Opitz Gbbb Syndrome	Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2745
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Pandas	Enuresis	ORPHA:66624
Alexander Disease Type Ii	Limb muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:363722
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Abnormality of the kidney	ORPHA:53721
Marshall-Smith Syndrome	Omphalocele, Umbilical hernia, Death in childhood	OMIM:602535
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti...	ORPHA:85450
Simpson-Golabi-Behmel Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic...	ORPHA:373
3Mc Syndrome 1	Omphalocele, Abnormality of the abdominal wall, Diastasis recti	OMIM:257920
Acrocephalopolydactylous Dysplasia	Omphalocele	OMIM:200995
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Inferiorly...	OMIM:263650
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Flexion contracture, Spastic/hyperactive bladder, Generalized limb muscle atrophy, Leg muscle sti...	ORPHA:137898
Otopalatodigital Syndrome Type 2	Omphalocele, Camptodactyly of finger	ORPHA:90652
Cln3 Disease	Left ventricular hypertrophy, Urinary bladder sphincter dysfunction	ORPHA:228346
Pagod Syndrome	Omphalocele, Death in infancy, Congenital diaphragmatic hernia	ORPHA:991
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Camptodactyly	OMIM:616894
Fryns Syndrome	Omphalocele, Aplasia of the left hemidiaphragm, Stillbirth, Camptodactyly, Joint contracture of t...	OMIM:229850
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Joint contracture of the hand, Flexion contracture of toe, Camptodactyly	OMIM:300373
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Diastasis recti	OMIM:618419
Iniencephaly	Omphalocele, Arthrogryposis multiplex congenita, Gastroschisis, Congenital diaphragmatic hernia	ORPHA:63259
Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence	OMIM:300100
Codas Syndrome	Omphalocele, Enamel hypoplasia	OMIM:600373
Porphyria, Acute Intermittent	Dysuria, Urinary retention, Urinary incontinence, Elevated urinary delta-aminolevulinic acid	OMIM:176000
Distal Deletion 10Q	Scapular winging, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Facial diple...	ORPHA:96148
Melnick-Needles Syndrome	Omphalocele, Stillbirth	OMIM:309350
Holoprosencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2162
Alg9-Cdg	Omphalocele, Lipodystrophy	ORPHA:79328
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb amyotrophy, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence	ORPHA:466722
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency	OMIM:619286
Spinocerebellar Ataxia 10	Urinary urgency, Urinary incontinence	OMIM:603516
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Enures...	OMIM:619743
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Umbilical hernia	ORPHA:2166
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Urinary bladder sphincter dysfunction, Leg muscle stiffness	ORPHA:43
Blepharophimosis-Impaired Intellectual Development Syndrome	Enuresis, Recurrent urinary tract infections, Flexion contracture, Hypospadias	OMIM:619293
Spinocerebellar Ataxia Type 13	Urinary urgency, Torticollis, Urinary incontinence	ORPHA:98768
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abdominal wall defect...	ORPHA:322
Ablepharon Macrostomia Syndrome	Omphalocele, Umbilical hernia, Camptodactyly of finger	ORPHA:920
Spastic Paraplegia 9A, Autosomal Dominant	Urinary urgency, Generalized amyotrophy, Urinary incontinence	OMIM:601162
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Flexion c...	ORPHA:96334
Spinocerebellar Ataxia 2	Distal amyotrophy, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:183090
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, ...	ORPHA:2953
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Diastasis recti, Neonatal death	OMIM:265380
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Cardiac Diverticulum	Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti	ORPHA:1686
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Esophageal Atresia	Omphalocele	ORPHA:1199
C Syndrome	Omphalocele, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital d...	ORPHA:1308
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary urgency, Pollakisuria, Lower limb hypertonia, Urinary incontinence	ORPHA:447753
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Persistent cloaca	OMIM:615709
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Rhabdomyolysis, Enuresis, Hypocalciuria, Nocturia, Renal potas...	OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting	OMIM:612780
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Camptodactyly	ORPHA:459061
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um...	OMIM:305600
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Death in childhood, Neonatal death, Umbilical hernia	OMIM:308205
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency, Distal amyotrophy, Peroneal muscle atrophy	OMIM:270550
Spinocerebellar Ataxia Type 42	Urinary urgency, Urinary incontinence	ORPHA:458803
Congenital-Onset Steinert Myotonic Dystrophy	Enuresis, Facial hypotonia	ORPHA:589821
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele	ORPHA:436252
Orthostatic Hypotension 1	Weakness of facial musculature, Nocturia	OMIM:223360
Adrenomyeloneuropathy	Urinary incontinence, Urinary urgency, Urinary retention, Leg muscle stiffness, Urinary bladder s...	ORPHA:139399
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:116
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele	ORPHA:3186
Meckel Syndrome, Type 1	Omphalocele, Camptodactyly of finger	OMIM:249000
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Oeis Complex	Omphalocele, Bladder exstrophy, Cloacal exstrophy	OMIM:258040
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Umbilical hernia	ORPHA:1519
Machado-Joseph Disease	Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:109150
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele	OMIM:618820
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Spinocerebellar Ataxia 1	Skeletal muscle atrophy, Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:164400
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Perineural Cyst	Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Distal lower limb musc...	ORPHA:65250
Urachal Cyst	Hematuria, Urachus fistula, Dysuria, Pyuria	ORPHA:488
Holoprosencephaly 7	Omphalocele	OMIM:610828
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Camptodactyly	OMIM:200110
Heterotaxy, Visceral, 1, X-Linked	Omphalocele	OMIM:306955
Multiple System Atrophy 1, Susceptibility To	Urinary urgency, Skeletal muscle atrophy, Urinary incontinence	OMIM:146500
Fraser Syndrome	Omphalocele, Umbilical hernia, Death in infancy	ORPHA:2052
Hydrolethalus Syndrome 1	Omphalocele, Stillbirth	OMIM:236680
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	Omphalocele, Camptodactyly of finger, Inguinal hernia, Abnormal dental enamel morphology	ORPHA:2273
Otopalatodigital Syndrome, Type Ii	Omphalocele, Umbilical hernia, Stillbirth, Elbow contracture	OMIM:304120
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Tenorio Syndrome	Macroglossia, Enuresis	OMIM:616260
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ...	ORPHA:254892
Okamoto Syndrome	Omphalocele	ORPHA:2729
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Friedreich Ataxia	Hand muscle atrophy, Urinary bladder sphincter dysfunction	ORPHA:95
Arachnoid Cyst	Facial palsy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontin...	ORPHA:2356
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Nocturia	ORPHA:230
Charge Syndrome	Omphalocele, Umbilical hernia	OMIM:214800
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Rhabdomyolysis, Tubulointerstitia...	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	Spastic/hyperactive bladder, Hypomimic face	ORPHA:411602
Citrullinemia Type Ii	Enuresis	ORPHA:247585
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Flexion contracture, Urinary retention	ORPHA:99027
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly...	OMIM:601803
7Q11.23 Microduplication Syndrome	Hypospadias, Congenital diaphragmatic hernia, Unilateral renal agenesis, Enuresis, Hydronephrosis	ORPHA:96121
Acute Transverse Myelitis	Urinary incontinence, Upper limb muscle weakness, Urinary retention, Urinary bladder sphincter dy...	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	Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Flexion cont...	ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, Enuresis	ORPHA:369950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r...	OMIM:619522
Parkinson Disease 14, Autosomal Recessive	Nocturia, Hypomimic face	OMIM:612953
Isolated Posterior Meningocele	Enuresis	ORPHA:268810
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Flexion contracture, Urethral stenosis, ...	OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Unilateral renal agenesis, Flexion contracture, Elbow flexion contracture, Knee ...	OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis	ORPHA:293987
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, 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
Cald1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cald1^{tm37365(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cald1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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