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Gene: Ctnnal1 MGI:1859649

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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 Ctnnal1tm1e(EUCOMM)Wtsi HOM   Early adult 4.95×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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
Ctnnal1tm1e(EUCOMM)Wtsi
head, WT, Female, WTSI
Ctnnal1tm1e(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Ctnnal1tm1e(EUCOMM)Wtsi
body, HOM, Female, WTSI
Ctnnal1tm1e(EUCOMM)Wtsi
body, WT, Female, WTSI
Ctnnal1tm1e(EUCOMM)Wtsi
body, WT, Female, WTSI

View all 144 images

Ctnnal1tm1e(EUCOMM)Wtsi
tail skin, HOM, Female, WTSI
Ctnnal1tm1e(EUCOMM)Wtsi
tail skin, WT, Female, WTSI
Ctnnal1tm1e(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.

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 Similarity of
phenotypes		 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) Ctnnal1tm1e(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ctnnal1tm1a(EUCOMM)Wtsi PMC6459510
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Ctnnal1tm1e(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
Ctnnal1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctnnal1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice, ES Cells
Ctnnal1tm36202(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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