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Gene: Ctnnal1 MGI:1859649

Gene Summary

Name:

catenin alpha like 1

Synonyms:

Catnal1, catenin (cadherin associated protein), alpha-like 1, ACRP

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating bilirubin level		Ctnnal1^{tm1e(EUCOMM)Wtsi}	HOM		Early adult	4.95×10^-05

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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.

Legacy Phenotype Associated Images

Ctnnal1^{tm1e(EUCOMM)Wtsi}
head, WT, Female, WTSI

Ctnnal1^{tm1e(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Ctnnal1^{tm1e(EUCOMM)Wtsi}
body, HOM, Female, WTSI

Ctnnal1^{tm1e(EUCOMM)Wtsi}
body, WT, Female, WTSI

View all 144 images

Ctnnal1^{tm1e(EUCOMM)Wtsi}
tail skin, HOM, Female, WTSI

Ctnnal1^{tm1e(EUCOMM)Wtsi}
tail skin, WT, Female, WTSI

Ctnnal1^{tm1e(EUCOMM)Wtsi}
tail skin, HOM, Female, WTSI

Human diseases caused by Ctnnal1 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 Ctnnal1 (0 diseases)
Human diseases predicted to be associated with Ctnnal1 (274 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ctnnal1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Cysteine Peptiduria	Abnormal circulating glycine concentration, Abnormal circulating cysteine concentration	OMIM:219550
Maple Syrup Urine Disease, Mild Variant	Hyperisoleucinemia, Hyperleucinemia	OMIM:615135
Sarcosinemia	Hypersarcosinemia	OMIM:268900
Schizophrenia 4	Hyperprolinemia	OMIM:600850
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Isolated Hemihyperplasia	Cryptorchidism, Myelomeningocele	ORPHA:2128
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation	OMIM:207950
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk...	OMIM:611134
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Congenital Vertical Talus	Myelomeningocele	ORPHA:178382
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl...	ORPHA:1908
Caudal Duplication	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:1756
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Wildervanck Syndrome	Meningocele	ORPHA:3456
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi...	ORPHA:268810
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Neurocutaneous Melanocytosis	Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation, Chiari malformation	ORPHA:2481
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Diaphanospondylodysostosis	Myelomeningocele	ORPHA:66637
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Alg3-Cdg	Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation	ORPHA:79321
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening...	OMIM:614424
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia	OMIM:613673
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida	ORPHA:99742
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Acromelic Frontonasal Dysplasia	Encephalocele, Cryptorchidism, Meningocele, Retrocerebellar cyst	ORPHA:1827
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Meningocele, Spina bifida occulta, Cryptorchidism	ORPHA:2311
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Neu-Laxova Syndrome 2	Cerebellar hypoplasia, Spina bifida	OMIM:616038
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, Chiari malformation, Cryptorchidism	ORPHA:2789
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele, Chiari type I malformation, Umbilical hernia	OMIM:130720
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel...	ORPHA:397715
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida	ORPHA:1393
Lathosterolosis	Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H...	OMIM:607330
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Lumbar Syndrome	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:83628
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul...	OMIM:614866
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Curry-Jones Syndrome	Chiari type I malformation, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration	ORPHA:53035
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Cerebellar vermis hypoplasia, Anencephaly	OMIM:616546
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Lathosterolosis	Meningocele, Chiari malformation, Cerebellar cortical atrophy	ORPHA:46059
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Trisomy 18	Spina bifida, Cryptorchidism, Anencephaly, Chiari malformation, Holoprosencephaly	ORPHA:3380
Phakomatosis Pigmentokeratotica	Cryptorchidism, Spina bifida	ORPHA:2874
Ogden Syndrome	Hyperbilirubinemia	OMIM:300855
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Neu-Laxova Syndrome	Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebellar vermis morphology, Spina bi...	ORPHA:2671
Trisomy 20P	Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism	ORPHA:261318
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Mosaic Trisomy 9	Cryptorchidism, Dandy-Walker malformation, Spina bifida	ORPHA:99776
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Degcags Syndrome	Hyperbilirubinemia	OMIM:619488
Pagod Syndrome	Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida	ORPHA:991
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari...	ORPHA:573278
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Fibular Hemimelia	Spina bifida	ORPHA:93323
Aicardi Syndrome	Dandy-Walker malformation, Cerebellar vermis hypoplasia, Spina bifida, Chiari malformation	OMIM:304050
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Arima Syndrome	Agenesis of cerebellar vermis, Occipital meningocele, Cerebellar vermis hypoplasia, Dilated fourt...	OMIM:243910
Neu-Laxova Syndrome 1	Spina bifida, Cryptorchidism, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, H...	OMIM:256520
Orofaciodigital Syndrome Vi	Occipital meningocele, Cerebellar vermis hypoplasia	OMIM:277170
Phocomelia, Schinzel Type	Cryptorchidism, Meningocele	ORPHA:2879
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Hallermann-Streiff Syndrome	Cryptorchidism, Spina bifida	OMIM:234100
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Focal Dermal Hypoplasia	Umbilical hernia, Spina bifida	ORPHA:2092
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Spina bifida	OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation	Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Chiari type I malformation	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Chiari type I malformation	ORPHA:363958
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Cerebellar atrophy	OMIM:267750
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
22Q11.2 Deletion Syndrome	Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical h...	ORPHA:567
Fanconi Anemia	Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Umbilical hernia, Abnormal testis morph...	ORPHA:84
Jacobsen Syndrome	Cryptorchidism, Spina bifida	ORPHA:2308
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida	ORPHA:508498
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Schinzel-Giedion Syndrome	Chiari type I malformation, Umbilical hernia, Neural tube defect	ORPHA:798
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93924
Rubinstein-Taybi Syndrome 1	Bilateral cryptorchidism, Cryptorchidism, Spina bifida occulta, Spina bifida	OMIM:180849
Marfan Syndrome	Meningocele	ORPHA:558
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:322
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Patent urachus	OMIM:192350
Otopalatodigital Syndrome, Type Ii	Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia	OMIM:304120
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Cryptorchidism	OMIM:276820

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 Ctnnal1

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 Ctnnal1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ctnnal1^{tm1e(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ctnnal1^{tm1a(EUCOMM)Wtsi}	PMC6459510
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Ctnnal1^{tm1e(EUCOMM)Wtsi}	PMC4631787

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
Ctnnal1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ctnnal1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Ctnnal1^{tm36202(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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