Gene Summary

Name:
debranching RNA lariats 1
Synonyms:
N/A

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
decreased urine magnesium level Dbr1tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal lens morphology Dbr1tm1.1(KOMP)Vlcg HET Early adult 1.23×10-07
preweaning lethality, complete penetrance Dbr1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to organogenesis Dbr1tm1.1(KOMP)Vlcg HOM   E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail 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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Dbr1 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.

The table below shows human diseases associated to Dbr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
OMIM:619441

The table below shows human diseases predicted to be associated to Dbr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... OMIM:248190
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis ORPHA:564178
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Trichomegaly
Cataract OMIM:190330
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... ORPHA:405
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
East Syndrome
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... ORPHA:199343
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria ORPHA:34527
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... OMIM:604278
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Aniridia 2
Aniridia, Cataract OMIM:617141
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis OMIM:612286
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... OMIM:203780
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Tubular Renal Disease-Cardiomyopathy Syndrome
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... ORPHA:73224
Proximal Myotonic Myopathy
Cataract ORPHA:606
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Nephrolithiasis OMIM:612287
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Cataract 43
Subcapsular cataract OMIM:616279
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Gitelman Syndrome
Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal magnesium wasting OMIM:263800
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Autosomal Dominant Hypocalcemia
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis ORPHA:428
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... OMIM:607364
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis OMIM:239199
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... OMIM:613090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria OMIM:612780
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Hypercalciuria, Nephrolithiasis OMIM:145980
Cranioectodermal Dysplasia 1
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting OMIM:218330
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis ORPHA:99879
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting OMIM:614736
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria OMIM:613845
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Kayser-... OMIM:277900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria OMIM:614732
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria OMIM:300539
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Corneal crystals, Renal tubular dysfunction, Hyperphosphaturia, Abnormal ... ORPHA:411629
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria OMIM:601198
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting OMIM:264350
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... ORPHA:2088
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria ORPHA:157215
Familial Hypoaldosteronism
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis ORPHA:427
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:601678
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... OMIM:220110
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria OMIM:227810
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis ORPHA:320
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... ORPHA:436271
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction OMIM:241530
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Oculoskeletodental Syndrome
Developmental cataract, Renal agenesis, Mucopolysacchariduria, Hypercalciuria OMIM:618440
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Hypophosphatasia, Infantile
Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate, Nephrocalcinosis OMIM:241500
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:241200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Infantile Bartter Syndrome With Sensorineural Deafness
Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease, Hyperprostaglandinuria, St... ORPHA:89938
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalciuria, Polyuria, Aminoaciduria OMIM:239200
Helix Syndrome
Hypocalciuria, Polyuria, Renal insufficiency, Nephrolithiasis OMIM:617671
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney, Corneal opacity OMIM:163200
Adrenal Hypoplasia, Congenital
Renal salt wasting OMIM:300200
Familial Glucocorticoid Deficiency
Renal salt wasting, Recurrent urinary tract infections, Hypernatriuria ORPHA:361
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis OMIM:615398
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis OMIM:156400
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level ORPHA:90795
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Renal salt wasting, Penoscrotal hypospadias ORPHA:90791
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium concentration, Renal sal... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium concentration, Renal sal... ORPHA:289548
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tubular acidosis... OMIM:229600
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Developmental cataract, Dense posterior cortical catar... OMIM:309000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Acute Adrenal Insufficiency
Renal salt wasting, Renal insufficiency, Decreased urinary potassium ORPHA:95409
Hypophosphatemic Rickets
Hyperphosphaturia, Nephrocalcinosis, Hypocalciuria, Renal phosphate wasting, Hypercalciuria, Rena... ORPHA:437
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated urinary catecholam... ORPHA:653
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Lenti... ORPHA:534
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Congenital megaureter, Renal dysplasia, Rena... ORPHA:369837
Mccune-Albright Syndrome
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction ORPHA:562
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... ORPHA:358
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypernatriuria, Abnormal urine potassium concentration ORPHA:275761
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Renal dysplasia, Hypercalciuria, Cataract, Nephrocalcinosis OMIM:300990
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia ORPHA:289176
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... ORPHA:99880
Parathyroid Carcinoma
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... ORPHA:143
Addison Disease
Renal salt wasting, Decreased urinary potassium ORPHA:85138
X-Linked Hypophosphatemia
Hypocalciuria, Renal phosphate wasting ORPHA:89936
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Elevated urinary epinephrine, Long penis, Urogenital sinus anomaly, Renal salt wasting, Hypernatr... ORPHA:90794
Williams Syndrome
Megalocornea, Hypercalciuria, Abnormality of the bladder, Renovascular hypertension, Nephrocalcin... ORPHA:904
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Urinary retention ORPHA:79102
Gaisböck Syndrome
Hypernatriuria, Nephrocalcinosis ORPHA:90041
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital megaureter, Nephrolithiasis, Multiple renal cysts, Nephropathy, ... ORPHA:116
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Hypercalciuria, Microscopic nephrocalcinosis OMIM:219721
Williams-Beuren Syndrome
Blue irides, Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Recurrent urin... OMIM:194050
Sarcoidosis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Nephrocalcinosis, Nephrolithiasis, Cata... ORPHA:797
Osteogenesis Imperfecta
Hypercalciuria, Corneal opacity, Nephrolithiasis ORPHA:666
Leprechaunism
Enlarged kidney, Hypercalciuria, Long penis, Nephrocalcinosis ORPHA:508
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis ORPHA:652
Sarcoidosis, Susceptibility To, 1
Hypercalciuria OMIM:181000
Cystic Fibrosis
Hypercalciuria OMIM:219700
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrocalcinosis ORPHA:51608
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
OMIM:619441

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 Dbr1

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 Dbr1.

No publications found that use IMPC mice or data for Dbr1.

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MGI Allele Allele Type Produced
Dbr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Dbr1tm78661(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dbr1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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