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Gene: Mars2 MGI:2444136

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Gene Summary

Name:
methionine-tRNA synthetase 2 (mitochondrial)
Synonyms:
C730026E21Rik

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
preweaning lethality, complete penetrance Mars2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased fasting circulating glucose level Mars2tm1.1(KOMP)Vlcg HET Early adult 4.20×10-05
increased total body fat amount Mars2tm1.1(KOMP)Vlcg HET Early adult 1.49×10-07
decreased urine magnesium level Mars2tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased lean body mass Mars2tm1.1(KOMP)Vlcg HET Early adult 2.04×10-05
embryonic lethality prior to organogenesis Mars2tm1.1(KOMP)Vlcg HOM   E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
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 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 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)
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 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 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 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (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

45 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Mars2 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 Mars2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive OMIM:616430

The table below shows human diseases predicted to be associated to Mars2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Hypocalciuric Hypercalcemia
Chondrocalcinosis, Nephrocalcinosis, Reduced ratio of renal calcium clearance to creatinine clear... ORPHA:405
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was... OMIM:248190
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Renal magnesium wasting, Hy... OMIM:248250
Hypomagnesemia 2, Renal
Chondrocalcinosis, Renal insufficiency, Renal magnesium wasting, Hypocalciuria OMIM:154020
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal potassium wasting, Polyuria, Nephrocalcinosis, Renal magnesium wasting OMIM:618314
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... OMIM:308990
Distal Renal Tubular Acidosis
Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c... ORPHA:18
East Syndrome
Enuresis, Renal magnesium wasting, Abnormal urinary electrolyte concentration, Renal sodium wasti... ORPHA:199343
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... ORPHA:2197
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria, Aminoaciduria OMIM:222730
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to... OMIM:616963
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Gitelman Syndrome
Enuresis, Chondrocalcinosis, Renal magnesium wasting, Hypocalciuria, Failure to thrive, Renal pot... OMIM:263800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypospadias OMIM:201910
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubula... ORPHA:73224
Dent Disease 2
Nephrocalcinosis, Chronic kidney disease, Umbilical hernia, Hypercalciuria, Proximal tubulopathy,... OMIM:300555
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Renal phosphate wasting OMIM:612286
Fanconi Renotubular Syndrome 2
Proteinuria, Decreased glomerular filtration rate, Glycosuria, Renal phosphate wasting, Renal ins... OMIM:613388
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria ORPHA:428
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Proteinuria, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Aminoaciduria, Hyperphosphaturia, L... OMIM:616026
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive, Nephrolithiasis,... OMIM:143880
Fanconi Renotubular Syndrome 3
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Glycosuria OMIM:615605
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive OMIM:239199
Fanconi Renotubular Syndrome 1
Glycosuria, Renal insufficiency, Renal tubular dysfunction, Impaired renal tubular reabsorption o... OMIM:134600
Primary Fanconi Renotubular Syndrome
Proximal renal tubular acidosis, Stage 5 chronic kidney disease, Glycosuria, Renal phosphate wast... ORPHA:3337
Dent Disease 1
Microscopic hematuria, Nephrocalcinosis, Chronic kidney disease, Glycosuria, Renal phosphate wast... OMIM:300009
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Nephrolithiasis, Hyperphosphaturia, Renal phosphate wasting OMIM:612287
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Nephrocalcinosis, Glycosuria, Diabetes mellitus... ORPHA:2088
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt... ORPHA:94088
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hypoglycemia, Failure to thrive OMIM:614736
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Dent Disease
Renal tubular atrophy, Proteinuria, Nephrocalcinosis, Glycosuria, Renal phosphate wasting, Chroni... ORPHA:1652
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Impaired renal ltubular reabsorp... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Increased urinary potassi... OMIM:613090
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Proteinuria, Glycosuria, Postprandial hyperglycemia, Beta 2-microglobulinur... OMIM:227810
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Chronic kidney disease, Diabetes mellitus, Failure to thrive, Renal salt wasting, Hy... OMIM:613845
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... ORPHA:730
Hypocalciuric Hypercalcemia, Familial, Type Ii
Chondrocalcinosis, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubul... OMIM:145981
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, Failure to thrive OMIM:602722
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia ORPHA:99879
Cranioectodermal Dysplasia 1
Inguinal hernia, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... OMIM:174000
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Proteinuria, Renal interstitial amyloid deposits, Decreased glomerular fil... ORPHA:85450
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Failure to thrive, Renal sodium wasting, Abnormal urine so... ORPHA:320
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Failure to thrive OMIM:610600
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Proximal Renal Tubular Acidosis
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Enamel hypomineral... ORPHA:47159
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate... OMIM:602522
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Failure to thrive OMIM:203400
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Juvenile Nephropathic Cystinosis
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Renal phosphate w... ORPHA:411634
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Failure to thrive OMIM:264350
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Renal insufficiency, Hypercalc... OMIM:300554
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Hypernatriuria, Hypoglycemic seizures, Failure to thrive, Ren... ORPHA:361
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Chondrocalcinosis, Nephrocalcinosis, Hyperchloriduria, Increased urina... OMIM:601678
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Renal insufficiency, Hypocalciuria, Multiple small medullary renal cysts, Neph... OMIM:600740
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting, Renal salt wasting, Polyuria OMIM:612780
Enamel-Renal Syndrome
Enuresis, Nephrocalcinosis, Renal insufficiency, Amelogenesis imperfecta, Nephropathy, Hypocalciu... ORPHA:1031
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Am... ORPHA:436271
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyposthenuria, Hypernatriuria OMIM:300539
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Decreased urinary potassium, Renal salt wasting, Failure to thrive ORPHA:427
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Nephrolithiasis, Hypercalciuria OMIM:145980
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypercalciuria, Failure to thrive, Calcium ne... OMIM:241530
Bartter Syndrome Type 4
Small for gestational age, Acute kidney injury, Nephrocalcinosis, Chronic kidney disease, Stage 5... ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Chondrocalcinosis, Nephrocalcinosis, Hyperchloriduria, Increased urina... OMIM:241200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Am... OMIM:220110
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria OMIM:614732
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Failure to thrive ORPHA:556037
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Nephrocalcinosis, Decreased glomerular filtration rate, Hypercalciuria OMIM:601198
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... ORPHA:84081
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hyperphosphaturia, Medullary nephrocalcinosis, Hypercalciuria ORPHA:157215
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Failure to thrive ORPHA:556030
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Failure to thrive, Elevated urine pyrop... OMIM:241500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Penoscrotal hypospadias, Failure to thrive, Renal salt wasting, Hypospadias ORPHA:90791
Adrenal Hypoplasia, Congenital
Renal salt wasting, Failure to thrive OMIM:300200
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Gitelman Syndrome
Enuresis, Maternal diabetes, Proteinuria, Chondrocalcinosis, Tubulointerstitial nephritis, Decrea... ORPHA:358
Fructose Intolerance, Hereditary
Proximal renal tubular acidosis, Transient aminoaciduria, Glycosuria, Hyperuricosuria, Bicarbonat... OMIM:229600
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Failure to thrive, Aminoaciduria, Polyuria, Hyperphosphaturia OMIM:239200
Infantile Nephropathic Cystinosis
Abnormal tubulointerstitial morphology, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunc... ORPHA:411629
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Aciduria, Nephrocalcinosis, Chronic kidney disease, Hyperoxaluri... ORPHA:416
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium OMIM:611489
Acute Adrenal Insufficiency
Decreased urinary potassium, Renal insufficiency, Failure to thrive, Renal salt wasting, Hypoglyc... ORPHA:95409
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Abnormal urine potassium concentration, Hypernatriuria, Urogenital sinus a... ORPHA:168558
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Oculoskeletodental Syndrome
Mucopolysacchariduria, Small for gestational age, Hypercalciuria, Elbow flexion contracture, Rena... OMIM:618440
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hypercalciuria, Failure to thrive, Hydroxyprolinuria, Ma... OMIM:239000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Abnormal urine potassium concentration, Hypernatriuria, Urogenital sinus a... ORPHA:289548
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Nephrocalcinosis, Renal cyst, Hydroureter, Hypercalciuria, Large for gestation... OMIM:615398
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Knee flexion contracture, Hypercalciuria, Hip contracture, Hyperphosphaturia OMIM:156400
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria OMIM:613677
Leprechaunism
Fasting hypoglycemia, Nephrocalcinosis, Enlarged kidney, Postprandial hyperglycemia, Hyperinsulin... ORPHA:508
Hypophosphatemic Rickets
Nephrocalcinosis, Enthesitis, Renal phosphate wasting, Renal insufficiency, Odontodysplasia, Hype... ORPHA:437
Cystinosis, Nephropathic
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Diabetes mellitus... OMIM:219800
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Renal tubular dysfunction, Renal phosphate wasting OMIM:307800
Addison Disease
Decreased urinary potassium, Failure to thrive, Renal salt wasting, Type I diabetes mellitus, Hyp... ORPHA:85138
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Parathyroid Carcinoma
Chondrocalcinosis, Renal hamartoma, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalci... ORPHA:143
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria OMIM:617671
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Arima Syndrome
Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... OMIM:243910
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypernatriuria, Cachexia, Failure to thrive, Renal salt w... ORPHA:275761
Wilson Disease
Proteinuria, Chondrocalcinosis, Glycosuria, Renal tubular dysfunction, Hypercalciuria, Nephrolith... OMIM:277900
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Complex organic aciduria, Renal Fanconi syndrome, Failure to thrive, H... OMIM:557000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Long penis, Increased urinary 11-deoxycorticosterone level, Renal salt wasting ORPHA:90795
Familial Hyperaldosteronism Type Iii
Hypercalciuria ORPHA:251274
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Renal hamartoma, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalci... ORPHA:99880
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium ORPHA:231580
Thyrotoxic Periodic Paralysis
Urinary retention, Postprandial hyperglycemia, Decreased urinary potassium, Obesity, Weight loss ORPHA:79102
Lowe Oculocerebrorenal Syndrome
Proximal renal tubular acidosis, Camptodactyly of finger, Stage 5 chronic kidney disease, Renal F... OMIM:309000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium ORPHA:231625
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Inguinal hernia, Enlarged kidney, Umbilical hernia, Multiple renal cysts, ... ORPHA:116
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Hypernatriuria, Elevated urinary epinephrine, Urogenital sinus anomaly, Fa... ORPHA:90794
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Gaisböck Syndrome
Overweight, Nephrocalcinosis, Hypernatriuria, Diabetes mellitus, Obesity ORPHA:90041
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia OMIM:163200
Mccune-Albright Syndrome
Hyperphosphaturia, Renal tubular dysfunction, Renal phosphate wasting ORPHA:562
X-Linked Hypophosphatemia
Enthesitis, Renal phosphate wasting, Odontodysplasia, Hypocalciuria, Cellulitis ORPHA:89936
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Hypercalciuria, Reduced subcutaneous adipose tissue, Nephrolithiasi... ORPHA:653
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Renal cyst, Congenital megaureter, Hypercalciuria, Renal dysplasia, Abnormality... ORPHA:369837
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Proteinuria, Inguinal hernia, Glomerulopathy, Nephrocalcinosis, ... ORPHA:534
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Enthesitis, Renal phosphate wasting ORPHA:289176
Opsismodysplasia
Renal phosphate wasting OMIM:258480
Williams-Beuren Syndrome
Recurrent urinary tract infections, Enuresis, Abnormal renal morphology, Inguinal hernia, Micrope... OMIM:194050
Williams Syndrome
Abnormal tubulointerstitial morphology, Renal duplication, Nephrocalcinosis, Inguinal hernia, Mul... ORPHA:904
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Renal dysplasia, Nephrocalcinosis, Hypercalciuria OMIM:300990
Osteogenesis Imperfecta
Small for gestational age, Inguinal hernia, Umbilical hernia, Hypercalciuria, Nephrolithiasis, Ab... ORPHA:666
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis, Multiple lipomas, Weight loss ORPHA:652
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Localized hypoplasia of dental enamel, Hypocalciuria ORPHA:73223
Cystic Fibrosis
Hypercalciuria, Failure to thrive OMIM:219700
Sarcoidosis
Nephrocalcinosis, Tubulointerstitial nephritis, Renal insufficiency, Hypercalciuria, Nephrolithia... ORPHA:797
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Weight loss OMIM:181000
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Failure to thrive in infancy, Medullary nephrocalcinosis, Cortical nephrocalcin... ORPHA:51608
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive OMIM:616430

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 Mars2

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 Mars2.

There are 1 publication 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) Mars2tm1.1(KOMP)Vlcg 32376682

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mars2tm394234(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mars2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Mars2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Mars2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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