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Gene: Dbr1 MGI:1931520

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Gene Summary

Name:
debranching RNA lariats 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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
decreased urine magnesium level Dbr1tm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic lethality prior to organogenesis Dbr1tm1.1(KOMP)Vlcg HOM   E9.5 0.00
abnormal lens morphology Dbr1tm1.1(KOMP)Vlcg HET Early adult 7.21×10-08
preweaning lethality, complete penetrance Dbr1tm1.1(KOMP)Vlcg HOM   Early adult 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Section

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View 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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Glycosuria, Cataract, Microcornea OMIM:612018
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Astigmatism... OMIM:248190
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Hypomagnesemia 3, Renal
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... OMIM:248250
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting ORPHA:564178
Cataract 42
Cataract, Developmental cataract OMIM:115900
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Trichomegaly
Cataract OMIM:190330
Familial Hypocalciuric Hypercalcemia
Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... ORPHA:405
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hypomagnesemia 2, Renal
Renal insufficiency, Hypocalciuria, Renal magnesium wasting OMIM:154020
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... ORPHA:2197
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
East Syndrome
Renal sodium wasting, Renal salt wasting, Abnormal urinary electrolyte concentration, Renal magne... ORPHA:199343
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Hypercalciuria OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria OMIM:612286
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Stage 5 chronic ki... OMIM:203780
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hyperprost... ORPHA:73224
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Proximal Myotonic Myopathy
Cataract ORPHA:606
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Gitelman Syndrome
Nocturia, Polyuria, Hypocalciuria, Renal magnesium wasting, Enuresis, Renal potassium wasting OMIM:263800
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... OMIM:613388
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... OMIM:300555
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria ORPHA:428
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria OMIM:615605
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... OMIM:134600
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Bartter Syndrome, Type 3
Renal salt wasting, Hyperchloriduria, Increased urinary potassium, Polyuria, Hypocalciuria, Impai... OMIM:607364
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria OMIM:239199
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria OMIM:143880
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
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
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, Polyuria, Decr... OMIM:613090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria ORPHA:99879
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Ren... OMIM:218330
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Nephrolithiasis, Hypercalciuria OMIM:145980
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... ORPHA:85450
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... OMIM:602522
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyposthenuria, Hypernatriuria OMIM:300539
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal sodium wasting, Renal insufficiency, Abnormal urine sodium concentration ORPHA:320
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal sodium wasting, Renal salt wasting, Polyuria, Hypocalciuria, Enuresis, Renal potassium wasting OMIM:612780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease OMIM:613845
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria OMIM:616026
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morph... ORPHA:411629
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting OMIM:264350
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria OMIM:601198
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria OMIM:614732
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne... ORPHA:2088
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... ORPHA:84081
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria ORPHA:157215
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium OMIM:611489
Familial Hypoaldosteronism
Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis ORPHA:427
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Hyperprostaglandinuria, Renal salt wasting, Hyperchloriduria, Increased urinary po... OMIM:601678
Fanconi-Bickel Syndrome
Glycosuria, Renal tubular dysfunction, Hyperphosphaturia, Generalized aminoaciduria OMIM:227810
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypercalciuria, Calcium nephrolithiasis OMIM:241530
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Medullary nephrocalcinosis, Hypercalciuria OMIM:300971
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting OMIM:614736
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria OMIM:613677
Bartter Syndrome Type 4
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Renal ... ORPHA:89938
Oculoskeletodental Syndrome
Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Developmental cataract OMIM:618440
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Hyperprostaglandinuria, Renal salt wasting, Hyperchloriduria, Increased urinary po... OMIM:241200
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Polyuria, Hypercalciuria OMIM:239200
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Corneal opacity OMIM:163200
Adrenal Hypoplasia, Congenital
Renal salt wasting OMIM:300200
Helix Syndrome
Renal insufficiency, Polyuria, Hypocalciuria, Nephrolithiasis OMIM:617671
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphatu... OMIM:219800
Familial Glucocorticoid Deficiency
Hypernatriuria, Renal salt wasting, Recurrent urinary tract infections ORPHA:361
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria OMIM:156400
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... OMIM:277900
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Stage 5 chronic kidney disease, Corneal scarring, Hyperphosphaturia, Dense posteri... OMIM:309000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Renal salt wasting, Long penis ORPHA:90795
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Penoscrotal hypospadias, Renal salt wasting ORPHA:90791
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level OMIM:239000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Hypernatr... ORPHA:168558
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Hypernatr... ORPHA:289548
Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Nephrocalcinosis, Renal insufficiency,... ORPHA:437
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... OMIM:229600
Acute Adrenal Insufficiency
Renal insufficiency, Renal salt wasting, Decreased urinary potassium ORPHA:95409
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Glomerulopathy, Aminoaciduria, Lentiglobus, Abnormal renal tubule morp... ORPHA:534
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Renal dysplasia, Renal cyst, Astigmatism, Abnormality of the urinary syste... ORPHA:369837
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Elevated urinary epineph... ORPHA:653
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Renal tubular dysfunction ORPHA:562
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypernatriuria, Renal salt wasting ORPHA:275761
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, Complex organic aciduria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, ... OMIM:557000
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme... ORPHA:358
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Cataract, Hypercalciuria, Renal dysplasia OMIM:300990
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:99880
Parathyroid Carcinoma
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Addison Disease
Renal salt wasting, Decreased urinary potassium ORPHA:85138
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Urinary retention ORPHA:79102
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Elevated urinary epinephrine, Hypernatriuria, Renal salt wasting, Long ... ORPHA:90794
Williams Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of the bladder, Blue irides, Nephrolithiasis, Vesicou... ORPHA:904
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria ORPHA:90041
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Nephropathy, Multi... ORPHA:116
Sarcoidosis
Tubulointerstitial nephritis, Abnormal conjunctiva morphology, Keratoconjunctivitis sicca, Catara... ORPHA:797
Williams-Beuren Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Nephrocalcinosis, Bladder diverticulum... OMIM:194050
Osteogenesis Imperfecta
Nephrolithiasis, Corneal opacity, Hypercalciuria ORPHA:666
Leprechaunism
Nephrocalcinosis, Enlarged kidney, Hypercalciuria, Long penis ORPHA:508
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Hypercalciuria ORPHA:652
Sarcoidosis, Susceptibility To, 1
Hypercalciuria OMIM:181000
Cystic Fibrosis
Hypercalciuria OMIM:219700
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosis, Medullary 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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