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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 (283 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	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Cysteine Peptiduria	Abnormal circulating cysteine concentration, Abnormal circulating glycine 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	Cerebellar dysplasia, Neural tube defect	OMIM:615041
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Hyperhomocystinemia, Methylmalonic acidemia	OMIM:613646
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:620010
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	OMIM:619868
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum	ORPHA:945
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da...	OMIM:617967
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Bile Acid Synthesis Defect, Congenital, 5	Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity	OMIM:616278
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:266120
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
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc...	ORPHA:766
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum	ORPHA:588
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk...	OMIM:611134
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia	ORPHA:95715
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration	OMIM:618892
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocel...	ORPHA:1908
Congenital Vertical Talus	Myelomeningocele	ORPHA:178382
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Congenital Bile Acid Synthesis Defect Type 2	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity	ORPHA:98870
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti...	OMIM:616860
Isolated Posterior Meningocele	Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neu...	ORPHA:268810
Wildervanck Syndrome	Meningocele	ORPHA:3456
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Dandy-Walker malformation	OMIM:603194
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity	OMIM:613280
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Neurocutaneous Melanocytosis	Meningocele, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Dandy-Walker malformation	ORPHA:2481
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Diaphanospondylodysostosis	Myelomeningocele	ORPHA:66637
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia	ORPHA:95716
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia	ORPHA:1667
Alg3-Cdg	Dandy-Walker malformation, Hypoplasia of the pons, Neural tube defect	ORPHA:79321
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Conjugated hyperbilirubinemia	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Pyruvate Kinase Deficiency Of Red Cells	Unconjugated hyperbilirubinemia, Reduced haptoglobin level	OMIM:266200
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Encephalocele, Hydrocephalus, Meningocele, Agenesis of cerebellar v...	OMIM:614424
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida	ORPHA:99742
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I...	ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia	ORPHA:348
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level	OMIM:613673
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Fetal Cytomegalovirus Syndrome	Conjugated hyperbilirubinemia	ORPHA:294
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:251880
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Lathosterolosis	Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia	OMIM:607330
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Rh Deficiency Syndrome	Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Fliedner-Zweier Syndrome	Meningocele, Cerebellar atrophy	OMIM:620511
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Glycogen Storage Disease Xii	Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration	OMIM:611881
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Acromelic Frontonasal Dysplasia	Meningocele, Retrocerebellar cyst, Encephalocele	ORPHA:1827
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration	ORPHA:90673
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Neu-Laxova Syndrome 2	Cerebellar hypoplasia, Spina bifida	OMIM:616038
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Meningocele, Umbilical hernia	ORPHA:2311
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Lateral Meningocele Syndrome	Meningocele, Chiari malformation, Umbilical hernia	ORPHA:2789
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Occipital encephalocele, Abnor...	ORPHA:397715
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Lateral Meningocele Syndrome	Chiari type I malformation, Meningocele, Hydrocephalus, Umbilical hernia	OMIM:130720
Cerebrocostomandibular Syndrome	Myelomeningocele, Hydranencephaly, Spina bifida, Meningocele	ORPHA:1393
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci...	OMIM:614866
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De...	OMIM:277900
Caroli Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Primary Biliary Cholangitis	Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch...	ORPHA:186
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Curry-Jones Syndrome	Chiari type I malformation, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Lathosterolosis	Cerebellar cortical atrophy, Meningocele, Chiari malformation	ORPHA:46059
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Anencephaly, Hydrocephalus, Occipital meningocele	OMIM:616546
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Caroli Disease	Conjugated hyperbilirubinemia	ORPHA:53035
Reynolds Syndrome	Hyperbilirubinemia, Calcinosis	OMIM:613471
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Ogden Syndrome	Hyperbilirubinemia	OMIM:300855
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Neu-Laxova Syndrome	Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Spina bifida, Dandy-Walker malforma...	ORPHA:2671
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Trisomy 18	Chiari malformation, Holoprosencephaly, Anencephaly, Spina bifida	ORPHA:3380
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Degcags Syndrome	Hyperbilirubinemia	OMIM:619488
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Mosaic Trisomy 9	Spina bifida, Dandy-Walker malformation	ORPHA:99776
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Spina bifida, Spina bifida ...	ORPHA:2369
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia	OMIM:613658
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Pagod Syndrome	Meningocele, Encephalocele, Spina bifida	ORPHA:991
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Fibular Hemimelia	Spina bifida	ORPHA:93323
Aicardi Syndrome	Cerebellar vermis hypoplasia, Chiari malformation, Spina bifida, Dandy-Walker malformation	OMIM:304050
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia	OMIM:620376
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Arima Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Occipital ...	OMIM:243910
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Occipital meningocele	OMIM:277170
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Focal Dermal Hypoplasia	Spina bifida, Umbilical hernia	ORPHA:2092
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Hallermann-Streiff Syndrome	Spina bifida	OMIM:234100
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Short umbilical cord, Neonatal death, Cerebellar hypoplasia, Spi...	OMIM:256520
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Phocomelia, Schinzel Type	Meningocele	ORPHA:2879
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Cerebellar atrophy	OMIM:267750
Thrombocytopenia-Absent Radius Syndrome	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Spina bifida	OMIM:274000
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Koolen-De Vries Syndrome Due To A Point Mutation	Chiari type I malformation, Hydrocephalus, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Chiari type I malformation, Hydrocephalus, Spina bifida	ORPHA:363958
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida	ORPHA:508498
Fanconi Anemia	Hydrocephalus, Azoospermia, Spina bifida, Umbilical hernia	ORPHA:84
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Spina bifida	OMIM:114290
Jacobsen Syndrome	Spina bifida	ORPHA:2308
22Q11.2 Deletion Syndrome	Hydrocephalus, Meningocele, Spina bifida, Umbilical hernia	ORPHA:567
Schinzel-Giedion Syndrome	Chiari type I malformation, Neural tube defect, Umbilical hernia	ORPHA:798
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Holoprosencephaly 9	Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus	OMIM:610829
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93924
Vater/Vacterl Association	Patent urachus, Occipital encephalocele, Spina bifida	OMIM:192350
Cutis Laxa, Autosomal Recessive, Type Ib	Spina bifida, Neonatal death	OMIM:614437
Rubinstein-Taybi Syndrome 1	Spina bifida occulta, Spina bifida	OMIM:180849
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Otopalatodigital Syndrome, Type Ii	Stillbirth, Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:304120
Marfan Syndrome	Meningocele	ORPHA:558
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Femoral-Facial Syndrome	Encephalocele, Spina bifida	OMIM:134780
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele	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

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