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Gene: Mrps22 MGI:1928137

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Gene Summary

Name:
mitochondrial ribosomal protein S22
Synonyms:
3100002P07Rik,  Rpms22

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
increased total body fat amount Mrps22tm1.1(KOMP)Vlcg HET Early adult 6.60×10-08
increased mean corpuscular hemoglobin concentration Mrps22tm1.1(KOMP)Vlcg HET Early adult 2.93×10-05
decreased circulating creatinine level Mrps22tm1.1(KOMP)Vlcg HET Early adult 7.81×10-05
embryonic lethality prior to organogenesis Mrps22tm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased bone mineral content Mrps22tm1.1(KOMP)Vlcg HET Early adult 1.17×10-06
increased leukocyte cell number Mrps22tm1.1(KOMP)Vlcg HET Early adult 8.30×10-05
hyperactivity Mrps22tm1.1(KOMP)Vlcg HET Early adult 3.63×10-06
decreased bone mineral density Mrps22tm1.1(KOMP)Vlcg HET Early adult 3.87×10-05
preweaning lethality, complete penetrance Mrps22tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased lean body mass Mrps22tm1.1(KOMP)Vlcg HET Early adult 5.55×10-05

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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
Epididymis  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote Not available
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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 100% (2 of 2)
Ear N/A heterozygote 100% (2 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 Ambiguous
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
urinary bladder 0.0%
uterus 0.35% (2 of 579)
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.

Adult LacZ

LacZ Images Section

5 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Mrps22 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 Mrps22 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xx Gonadal Dysgenesis
Reduced bone mineral density, Osteoporosis of vertebrae, Osteopenia ORPHA:243
Combined Oxidative Phosphorylation Deficiency 5
Hyperammonemia OMIM:611719
Ovarian Dysgenesis 7
Delayed puberty OMIM:618117

The table below shows human diseases predicted to be associated to Mrps22 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Delayed femoral head ossification, Limited hip movement, ... ORPHA:168621
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... ORPHA:232
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification, Anemia ORPHA:3319
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria, Hyperactivity, Anemia OMIM:238700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Pathologic fracture, Anemia, Hyperkalemia, Osteopetrosis, Cortica... OMIM:620366
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Hyperuricemia, Anemia, Neutropenia, Elevated circulating creatinine concentration OMIM:617056
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Increa... OMIM:618963
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Beta-Thalassemia
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, A... ORPHA:848
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Hyperprolinemia, Type I
Hyperactivity, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu... OMIM:617872
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Weight loss ORPHA:517
Hartnup Disorder
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Hyperglycinemia, Hyperglycinuria OMIM:605899
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Failure to thrive OMIM:617744
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Osteomalacia, Hypocalcemia, Elevated circulating creatinine con... OMIM:179800
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Dec... ORPHA:231222
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Fanconi Renotubular Syndrome 3
Rickets, Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Preeclampsia
Small for gestational age, Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Elevated circulating creatinine concentration OMIM:616733
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... OMIM:231095
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Elevated circulating creatinine concentration ORPHA:567544
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Anemia, Failure to thrive, Thrombocytopenia, Elevated circulating creatinine conce... OMIM:608104
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Hypoalbuminemia, Anemia, Salmonella osteomyelitis, Histiocytosi... OMIM:209950
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis... ORPHA:98850
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Osteopetrosis, Splenomegaly OMIM:612840
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Majeed Syndrome
Increased bone mineral density, Leukocytosis, Cachexia, Failure to thrive, Increased susceptibili... ORPHA:77297
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... OMIM:300908
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Bone Marrow Failure Syndrome 3
Reduced bone mineral density, Hyperactivity, Aplastic anemia, Anemia, Persistence of hemoglobin F... OMIM:617052
Multiple Myeloma
Pathologic fracture, Anemia, Hyperproteinemia, Osteopenia, Weight loss, Splenomegaly, Hypercalcem... ORPHA:29073
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s... OMIM:618885
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Eosinophilia, Dysphagia, Elevated circulating C-reactive protein concentrat... ORPHA:2070
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Abscess, Elevated circulating creatine kinase concentratio... ORPHA:36234
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Joint stiffness, Hyperactivity, Umbilical hernia, Dense calvaria, Splenomegaly OMIM:252900
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Hypouri... ORPHA:760
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration, Anemia OMIM:266900
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Diamond-Blackfan Anemia 6
Tracheomalacia, Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean... OMIM:612561
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia, Failure to thrive ORPHA:98791
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity, Osteopenia OMIM:608747
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Panniculitis, Elevated circulating C-r... OMIM:617099
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... ORPHA:90038
Lead Poisoning
Small for gestational age, Increased LDL cholesterol concentration, Anemia, Attention deficit hyp... ORPHA:330015
Shwachman-Diamond Syndrome 1
Small for gestational age, Anemia, Persistence of hemoglobin F, Neutropenia, Failure to thrive, T... OMIM:260400
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Joint stiffness, Dense calvaria, Dysphagia, Hernia, Splenomegaly OMIM:252930
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Reduced hematocrit, Elevated circulating c... ORPHA:79126
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Knee flexion contracture, Elevated circulating l... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Decreased circulating apolipoprotein A-I concentration, Anemia, Decreased HDL... ORPHA:85450
Histidinemia
Hyperhistidinemia, Hyperactivity, Histidinuria ORPHA:2157
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Hyperuricemia, Elevated circulating creatinine concentration ORPHA:79233
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Citrullinemia Type Ii
Abnormal eating behavior, Hypoproteinemia, Decreased body mass index, Hyperactivity, Restlessness... ORPHA:247585
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Persistence of hemoglobin F, Overweight OMIM:619769
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration OMIM:620138
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Increased blood urea nitrogen, Elevated circulating C-reactive protein concent... ORPHA:49041
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Normocytic anemia, Elevated circulating creatinine concentration ORPHA:247691
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... OMIM:613095
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Failure to thrive, Polydipsia, Hypocal... ORPHA:411634
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Thymoma
Aplastic anemia, Pure red cell aplasia, Leukemia, Imbalanced hemoglobin synthesis, Rheumatoid art... ORPHA:99867
Oligomeganephronia
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia, Elevated circulating crea... ORPHA:2260
46,Xy Sex Reversal 4
Distal symphalangism, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Persistence of hemoglobin F OMIM:617101
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive ORPHA:423479
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Agitation, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Decreased bod... ORPHA:340
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hyperammonemia, Abnormal lymp... ORPHA:99826
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Diamond-Blackfan Anemia
Small for gestational age, Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutro... ORPHA:124
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Joint stiffness, Anemia ORPHA:847
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Papillorenal Syndrome
Joint laxity, Elevated circulating creatinine concentration OMIM:120330
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Failure to thrive, Increased m... OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Normochromic anemia, Elevated circulating C-reactive prote... ORPHA:91500
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Renal Cysts And Diabetes Syndrome
Gout, Hyperuricemia, Elevated circulating creatinine concentration OMIM:137920
46,Xx Gonadal Dysgenesis
Reduced bone mineral density, Osteoporosis of vertebrae, Osteopenia ORPHA:243
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Hyperbilirubinem... OMIM:619534
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Eosinophilia, Elevated circulating C-reactive protein co... ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 5
Hyperammonemia OMIM:611719
Ovarian Dysgenesis 7
Delayed puberty OMIM:618117

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 Mrps22

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 Mrps22.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Mrps22tm1.1(KOMP)Vlcg 32376682
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Human molecular genetics (June 2018) Mrps22tm1.1(KOMP)Vlcg 29566152

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mrps22tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Mrps22tm84087(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mrps22tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mrps22tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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