Gene Summary

Name:
rhomboid like 1
Synonyms:
Rhbdl

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 aspartate transaminase level Rhbdl1tm1.1(KOMP)Vlcg HET Early adult 8.50×10-06
increased circulating bilirubin level Rhbdl1tm1.1(KOMP)Vlcg HET Early adult 1.28×10-05
preweaning lethality, complete penetrance Rhbdl1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to organogenesis Rhbdl1tm1.1(KOMP)Vlcg HOM   E9.5 0.00
abnormal skin morphology Rhbdl1tm1.1(KOMP)Vlcg HET Early adult 0.00
increased circulating alanine transaminase level Rhbdl1tm1.1(KOMP)Vlcg HET   Early adult 3.48×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 100% (1 of 1)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 50% (1 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 6)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 6)
Embryo N/A heterozygote 33.33% (2 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 0.0% (0 of 6)
Forebrain N/A heterozygote 0.0% (0 of 6)
Forelimb N/A heterozygote 0.0% (0 of 6)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 6)
Head N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A heterozygote 0.0% (0 of 6)
Hindlimb N/A heterozygote 0.0% (0 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lung N/A heterozygote 0.0% (0 of 6)
Mandibular process N/A heterozygote 0.0% (0 of 6)
Maxillary process N/A heterozygote 0.0% (0 of 6)
Midbrain N/A heterozygote 0.0% (0 of 6)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 6)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 6)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 6)
Tail N/A heterozygote 0.0% (0 of 6)
Trachea N/A heterozygote Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Ophthalmoscopy

10 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Combined SHIRPA and Dysmorphology

Images

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Adult LacZ

LacZ Images Section

2 Images

Human diseases caused by Rhbdl1 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 Rhbdl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
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
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul... OMIM:614866
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
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
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Rhbdl1

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 Rhbdl1.

No publications found that use IMPC mice or data for Rhbdl1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rhbdl1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rhbdl1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Rhbdl1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rhbdl1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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