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

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
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria, Rickets OMIM:615605
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration OMIM:607748
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia 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
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... ORPHA:93160
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration OMIM:616733
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:617056
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Fanconi Renotubular Syndrome 2
Osteopenia, Osteomalacia, Recurrent fractures, Rickets, Generalized aminoaciduria, Hypophosphatemia OMIM:613388
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration ORPHA:275555
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse ... OMIM:264700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil... ORPHA:232
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... ORPHA:289157
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Rickets, Aminoaciduria, Hypophosphatemia OMIM:616026
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Hypokalemia, Aminoaciduria, Hypophosphatemia OMIM:134600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Rickets OMIM:611590
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Generalized aminoacidur... OMIM:227810
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly OMIM:608104
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Rickets, Hypocholesterolemia OMIM:607765
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Cystinosis
Rickets, Hypokalemia, Aminoaciduria, Hypophosphatemia, Failure to thrive ORPHA:213
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... ORPHA:29073
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentratio... ORPHA:79303
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Failure t... ORPHA:2088
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... ORPHA:36234
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
46,Xy Sex Reversal 4
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Hypocalcemia, Enamel hypoplasia, Failure to thrive OMIM:212750
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Increase... ORPHA:3337
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated mat... OMIM:309000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... OMIM:277900
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypokalemia, Aminoaciduria, Hypophosphatemia, Failure ... ORPHA:411629
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility to fractures, Hypok... ORPHA:18
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:174000
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Oligomeganephronia
Small for gestational age, Elevated circulating creatinine concentration, Congenital diaphragmati... ORPHA:2260
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Rickets, Reduced bone miner... OMIM:613658
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Papillorenal Syndrome
Joint laxity, Elevated circulating creatinine concentration OMIM:120330
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... ORPHA:198
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Cystinosis, Nephropathic
Hyponatremia, Failure to thrive in infancy, Rickets, Generalized aminoaciduria, Reduced blood ure... OMIM:219800
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness,... ORPHA:534
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we... ORPHA:340
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:137920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... OMIM:619534
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer... 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.

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.

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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