Gene Summary

Name:
mitochondrial ribosomal protein L51
Synonyms:
HSPC241,  2610511M02Rik,  Mrp64,  CDA09

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 urine magnesium level Mrpl51tm1.1(KOMP)Vlcg HET Early adult 7.56×10-05
embryonic lethality prior to organogenesis Mrpl51tm1.1(KOMP)Vlcg HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage Mrpl51tm1.1(KOMP)Vlcg HOM   E12.5 0.00
abnormal lens morphology Mrpl51tm1.1(KOMP)Vlcg HET Early adult 3.18×10-06
decreased circulating glucose level Mrpl51tm1.1(KOMP)Vlcg HET   Early adult 3.41×10-05
preweaning lethality, complete penetrance Mrpl51tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  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 0.0% (0 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)
Mammary gland  Section images heterozygote 50% (1 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 0.0% (0 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 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 0.0% (0 of 2)
Lower urinary tract 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 50% (1 of 2)
Eye N/A heterozygote 100% (2 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 Ambiguous
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 Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 50% (1 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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
bone marrow 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
epididymis 13.28% (17 of 128)
esophagus 1.57% (6 of 381)
eye 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
submandibular gland 1.59% (2 of 126)
testis 1.08% (6 of 553)
thalamus 0.0%
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
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 1.09% (5 of 460)
dorsal root ganglion 1.75% (1 of 57)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
fronto-nasal process 1.79% (1 of 56)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)

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

47 Images

Sleep Wake

Wake state (bmp file)

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Mrpl51 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 Mrpl51 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
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Astig... OMIM:248190
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
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
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal magnesium wasting, Renal potassium wasting, Nephrocalcinosis ORPHA:564178
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma, Hyperinsulinemic hypoglycemia, Diabetes mellitus,... OMIM:147630
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal magnesium wasting, Renal potassium wasting, Polyuria OMIM:618314
Hypomagnesemia 2, Renal
Renal magnesium wasting, Hypocalciuria, Renal insufficiency OMIM:154020
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis, Renal steatosis OMIM:261650
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
East Syndrome
Enuresis, Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, R... ORPHA:199343
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hyperprostaglandin... ORPHA:73224
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
3-Methylglutaconic Aciduria Type 4
Cataract, Hypoglycemia, 3-Methylglutaconic aciduria, Iris hypopigmentation ORPHA:67048
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria ORPHA:428
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypospadias OMIM:201910
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hyp... ORPHA:35878
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Renal phosphate wasting OMIM:616963
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria ORPHA:2158
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypomagne... ORPHA:405
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67046
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Cataract, Anterior lenticonus, Thickened glomerular b... OMIM:203780
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypercalciuria, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612286
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency OMIM:613388
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hypoglycemia OMIM:614736
Gitelman Syndrome
Enuresis, Polyuria, Nocturia, Renal magnesium wasting, Renal potassium wasting, Hypocalciuria OMIM:263800
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Propionic Acidemia
Organic aciduria, Hypoglycemia ORPHA:35
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Aniridia 2
Cataract, Aniridia OMIM:617141
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Hypoglycemia, Proteinuria, Hyperphosphaturia, Aminoaciduria, Diabet... OMIM:616026
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypoglycemia, Hyperuricosuria, Hypercalciuria, Bicarbonatu... ORPHA:3337
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Fasting hypoglyc... ORPHA:2088
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Polyuria, Renal salt wasting, Renal potassium wasting, Increas... OMIM:607364
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Renal tubular acidosis, Nephrocalcinosis OMIM:239199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperechogenic kidneys, Diabet... OMIM:613845
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Proximal Renal Tubular Acidosis
Glycosuria, Band keratopathy, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria,... ORPHA:47159
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Cataract, Increased level of galactitol in urine, Nuclear cataract ORPHA:79237
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Abnormal cornea morphology, Proteinuria, Proximal tubulopathy... ORPHA:411634
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Polyuria, Renal salt wasting, Hypernatriuria, Renal insuffi... OMIM:613090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Ketonuria, Renal steatosis OMIM:261680
Mody
Glycosuria, Renal cyst, Neonatal hypoglycemia, Abnormality of the kidney, Insulin-resistant diabe... ORPHA:552
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Renal magnesium wasting, Chronic kidney disease OMIM:218330
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Kayser-Fleis... OMIM:277900
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Developmental cataract, Hypoglycemia... OMIM:231680
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidney disease, ... OMIM:300554
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Enuresis, Polyuria, Renal salt wasting, Renal sodium wasting, Renal potassium wasting, Hypocalciuria OMIM:612780
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Nocturia, Renal interstiti... ORPHA:85450
Familial Isolated Hyperparathyroidism
Hypercalciuria, Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency ORPHA:99879
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalciuria, Hypospadias OMIM:614732
Infantile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal cornea morphology, Hyperp... ORPHA:411629
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Renal salt wasting, Recurrent urinary tract infectio... ORPHA:361
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia OMIM:227810
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria OMIM:300539
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hypoglycemia OMIM:615751
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Decreased glomerular filtration rate, Nephrocalcinosis, Nephrolithiasis OMIM:601198
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting OMIM:264350
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Medullary nephrocalcinosis ORPHA:157215
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypocalci... OMIM:145981
Familial Hypoaldosteronism
Renal salt wasting, Proximal renal tubular acidosis, Decreased urinary potassium ORPHA:427
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyposthenuria, Hypercalciuria, Polyuria, Renal salt wasting, Hyperprostaglandin... OMIM:601678
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypercalciuria, Calcium nephrolithiasis, Renal tubular dysfunction, Renal phosphate wasting OMIM:241530
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Abnormal urine sodium concentration, Renal insufficiency ORPHA:320
Oculoskeletodental Syndrome
Renal agenesis, Hypercalciuria, Developmental cataract, Mucopolysacchariduria OMIM:618440
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis OMIM:300971
Hypophosphatasia, Infantile
Hypercalciuria, Elevated urine pyrophosphate, Nephrocalcinosis, Phosphoethanolaminuria OMIM:241500
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Proximal tubulopathy, Hyperphosphaturi... OMIM:229600
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyposthenuria, Hypercalciuria, Polyuria, Renal salt wasting, Hyperprostaglandin... OMIM:241200
Bartter Syndrome Type 4
Nephrocalcinosis, Acute kidney injury, Hypercalciuria, Renal salt wasting, Chronic kidney disease... ORPHA:89938
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Renal Fanconi syndrome, Nephrolithiasis, Proteinuria, Poly... OMIM:219800
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Penoscrotal hypospadias, Renal salt wasting, Hypospadias ORPHA:90791
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Gitelman Syndrome
Diabetic ketoacidosis, Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinary potassiu... ORPHA:358
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Elevated urine gly... ORPHA:416
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Horseshoe kidney, Hyperphosphaturia OMIM:163200
Acute Adrenal Insufficiency
Renal salt wasting, Hypoglycemia, Decreased urinary potassium, Renal insufficiency ORPHA:95409
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Midshaft hypospadias, Renal salt wasting, Abnormal urine potassium concent... ORPHA:168558
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Aminoaciduria, Polyuria, Hyperphosphaturia OMIM:239200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Midshaft hypospadias, Renal salt wasting, Abnormal urine potassium concent... ORPHA:289548
Hypophosphatemic Rickets, X-Linked Dominant
Renal tubular dysfunction, Renal phosphate wasting OMIM:307800
Adrenal Hypoplasia, Congenital
Renal salt wasting OMIM:300200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Nephrocalcinosis, Renal cyst OMIM:615398
Helix Syndrome
Hypocalciuria, Polyuria, Nephrolithiasis, Renal insufficiency OMIM:617671
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Nephrocalcinosis, Hyperphosphaturia OMIM:156400
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Renal Fanconi syndrome, Bicarbonaturia, Proteinuria, Hyperphosphaturia, A... OMIM:309000
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Hypercalciuria, Complex or... OMIM:557000
Addison Disease
Type I diabetes mellitus, Renal salt wasting, Hypoglycemia, Decreased urinary potassium ORPHA:85138
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Renal salt wasting, Long penis ORPHA:90795
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Increased urine deoxypyridinoline level, Hydroxyprolinuria OMIM:239000
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Hy... ORPHA:508
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Lentiglobus, Nephrocalcinosis, Buphthalmos, Nephrolithiasis, He... ORPHA:534
Hypophosphatemic Rickets
Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Renal insufficiency, Renal phosphate wasting... ORPHA:437
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Nephrolithiasis, Hypercalciuria, Elevated urinary epinephrine, E... ORPHA:653
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalciuria, Astigmatism, Renal dysplasia, Abnormality of the ur... ORPHA:369837
Mccune-Albright Syndrome
Renal tubular dysfunction, Hyperphosphaturia, Renal phosphate wasting ORPHA:562
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypernatriuria, Abnormal urine potassium concentration ORPHA:275761
Thyrotoxic Periodic Paralysis
Urinary retention, Decreased urinary potassium, Postprandial hyperglycemia ORPHA:79102
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Renal dysplasia, Nephrocalcinosis, Cataract OMIM:300990
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Renal salt wasting, Long penis, Elevated urinary epinephrine, Hypernatriur... ORPHA:90794
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting ORPHA:289176
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Diabetes mellitus ORPHA:90041
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Nephroblastoma, R... ORPHA:99880
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Nephroblastoma, R... ORPHA:143
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Hypoglycemia, Nephrolithiasis, Ureteral duplication, Neona... ORPHA:116
Williams Syndrome
Proteinuria, Blue irides, Recurrent urinary tract infections, Nephrocalcinosis, Hypercalciuria, C... ORPHA:904
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Williams-Beuren Syndrome
Nephrocalcinosis, Bladder diverticulum, Hypercalciuria, Micropenis, Renal hypoplasia, Enuresis, B... OMIM:194050
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypercalciuria, Microscopic nephrocalcinosis, Hypospadias OMIM:219721
Osteogenesis Imperfecta
Hypercalciuria, Corneal opacity, Nephrolithiasis ORPHA:666
Sarcoidosis
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Abnormal conjunctiva morphology, Cataract, Tub... ORPHA:797
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria 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
Nephrocalcinosis, Cortical nephrocalcinosis, Hyperphosphaturia, Medullary nephrocalcinosis ORPHA:51608

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 Mrpl51

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 Mrpl51.

No publications found that use IMPC mice or data for Mrpl51.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Mrpl51tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mrpl51tm456517(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mrpl51tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Mrpl51tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter