Gene Summary

Name:
mitochondrial ribosomal protein S35
Synonyms:
MDSO23,  MRPS28,  MRP-S28

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 lactate dehydrogenase level Mrps35tm1a(EUCOMM)Wtsi HET Early adult 1.29×10-05
increased lean body mass Mrps35tm1a(EUCOMM)Wtsi HET Early adult 3.39×10-07
abnormal bone mineralization Mrps35tm1a(EUCOMM)Wtsi HET Early adult 2.39×10-07
increased total body fat amount Mrps35tm1a(EUCOMM)Wtsi HET Early adult 2.01×10-06
increased bone mineral content Mrps35tm1a(EUCOMM)Wtsi HET Early adult 1.39×10-06
increased circulating creatinine level Mrps35tm1a(EUCOMM)Wtsi HET   Early adult 4.51×10-05
abnormal bone structure Mrps35tm1a(EUCOMM)Wtsi HET Early adult 4.65×10-07

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mrps35 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 Mrps35 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Rickets OMIM:607748
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Chondrocalcinosis, Path... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Osteomalacia OMIM:193100
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Abnormal adipose tissue... ORPHA:93160
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Arthritis ORPHA:567544
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypokalemia, Reduced subcutaneous adipose tissue, Hypouricemia, Osteom... OMIM:227810
Fanconi Renotubular Syndrome 1
Hypokalemia, Osteomalacia, Aminoaciduria, Hypophosphatemia, Rickets OMIM:134600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Rickets OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Failure to thrive, Delayed epiphys... OMIM:600081
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Osteopenia, Joint stiffness, Hernia, Osteoporosis, Femoral hernia, Osteomalacia, I... ORPHA:1901
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets OMIM:615605
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age ORPHA:275555
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Rickets, Osteomalacia ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, En... OMIM:264700
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Increased circulating beta-C-terminal telopeptide level, ... ORPHA:157215
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Sparse bone trabeculae, Enamel hypoplasia, Hypo... ORPHA:289157
Sickle Cell Anemia
Osteomyelitis, Unconjugated hyperbilirubinemia, Osteoporosis, Elevated circulating creatinine con... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Failure ... OMIM:241530
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Aminoaciduria, Hypophosphatemia, Rickets OMIM:616026
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Rickets OMIM:611590
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Thin bony ... OMIM:277440
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Aminoaciduria, Delay... OMIM:300009
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Rickets OMIM:607765
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia, Hypophosphatemia OMIM:307800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Osteomalacia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Cystinosis
Hypokalemia, Aminoaciduria, Failure to thrive, Hypophosphatemia, Rickets ORPHA:213
Infantile Systemic Hyalinosis
Osteopenia, Joint stiffness, Recurrent fractures, Osteoporosis, Increased susceptibility to fract... ORPHA:2176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Pathologic fracture, Hy... ORPHA:29073
Wilson Disease
Osteoporosis, Osteoarthritis, Osteomalacia, Joint hypermobility, Chondrocalcinosis, Aminoaciduria... OMIM:277900
Dent Disease
Sparse bone trabeculae, Recurrent fractures, Hyperuricosuria, Osteomalacia, Elevated circulating ... ORPHA:1652
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Osteopenia, Failure to thrive, Hypertriglyceridemia, Hypophosphatemia,... ORPHA:2088
Bacterial Toxic-Shock Syndrome
Cellulitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulating cre... ORPHA:36234
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thrive, Hyperbi... ORPHA:79303
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets... ORPHA:3337
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Osteomalacia, Lipoma, Chondrocalci... ORPHA:405
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Odontodysplasia, Arthritis, Limitation of joint mobility, Vertebral... ORPHA:89936
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Hypophosphatemic Rickets
Joint stiffness, Hypercalcemia, Odontodysplasia, Fibrous dysplasia of the bones, Craniofacial ost... ORPHA:437
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Distal symphalangism OMIM:154230
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Osteomalacia,... ORPHA:562
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Hypocalcemia, Osteoporosis, Failure to thrive, Weight loss, Rickets OMIM:212750
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein AI concentrat... ORPHA:85450
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Bicarbonaturia, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotei... OMIM:309000
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Weight loss, Rickets, Osteomalacia ORPHA:309031
Oligomeganephronia
Small for gestational age, Elevated circulating creatinine concentration, Congenital diaphragmati... ORPHA:2260
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Aminoaciduria, Failure to thrive, Hypophosphatemia... ORPHA:411629
Distal Renal Tubular Acidosis
Hypokalemia, Increased susceptibility to fractures, Osteomalacia, Aminoaciduria, Failure to thriv... ORPHA:18
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated circulatin... ORPHA:49041
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, Arthrogryposis multiplex congenita, ... ORPHA:2671
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small for gestational age, Slender build, Joint laxity, Hypocalcemia, Inguinal hernia... OMIM:613658
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Occipital Horn Syndrome
Hiatus hernia, Keloids, Osteopenia, Atypical scarring of skin, Osteoporosis, Femoral hernia, Oste... ORPHA:198
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevated circulating... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Atypical scarring of skin, Recurrent fractures, Hypercholesterolemia, ... ORPHA:534
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypokalemia, Hyponatremia, Failure to thrive in infancy, Hypophosphate... OMIM:219800
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Renal Cysts And Diabetes Syndrome
Gout, Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Decreased body weight, Hyperphosphatemia, Elevated circulating creatinine concentra... ORPHA:340
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Elevated ... ORPHA:449395
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Osteoporosis, Osteomalacia, Abnormally ossified vertebrae, Rickets ORPHA:2636
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Chorioretinal scar, Elevated circulating C-reactiv... ORPHA:91500
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Elevated circulating C-reactive protein concentration, Osteomalacia, Osteomyelitis, Hy... OMIM:619381
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Abnormal calcification of the carpal bones, Hypophosphatemic ricket... 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 Mrps35

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 Mrps35.

No publications found that use IMPC mice or data for Mrps35.

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MGI Allele Allele Type Produced
Mrps35tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mrps35tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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