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Gene: Macir MGI:1277184

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Gene Summary

Name:
macrophage immunometabolism regulator
Synonyms:
D1Ertd622e

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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 circulating chloride level Macirtm1.1(KOMP)Vlcg HET Early adult 2.67×10-05
increased circulating potassium level Macirtm1.1(KOMP)Vlcg HET   Early adult 5.28×10-07
preweaning lethality, incomplete penetrance Macirtm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased fasting circulating glucose level Macirtm1.1(KOMP)Vlcg HET Early adult 1.29×10-05
increased circulating sodium level Macirtm1.1(KOMP)Vlcg HET Early adult 5.04×10-05
increased circulating alanine transaminase level Macirtm1.1(KOMP)Vlcg HET   Early adult 5.01×10-05

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)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
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)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available
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% (1 of 1)
Embryo N/A homozygote 50% (1 of 2)
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 50% (1 of 2)
N/A Ambiguous
Dorsal root ganglion N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote 50% (1 of 2)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 50% (1 of 2)
N/A Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 50% (1 of 2)
N/A Ambiguous
Nose N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 50% (1 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous

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

44 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Sleep Wake

Wake state (bmp file)

1 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 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 Macir 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 Macir by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen OMIM:613845
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Liddle Syndrome
Hypokalemia ORPHA:526
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Hypoglycemia ORPHA:90790
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... ORPHA:1667
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia ORPHA:90791
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Type I diabetes mellitus ORPHA:199299
Snakebite Envenomation
Hyponatremia ORPHA:449285
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Hartsfield Syndrome
Hypernatremia OMIM:615465
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:617053
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Acute Adrenal Insufficiency
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper... ORPHA:95409
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Alg8-Cdg
Hyponatremia ORPHA:79325
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Infant Botulism
Hyponatremia ORPHA:178478
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Whipple Disease
Hyponatremia, Insulin resistance ORPHA:3452
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... ORPHA:79102
Addison Disease
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper... ORPHA:85138
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia ORPHA:293978
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Hypophosphatemia OMIM:134600
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Legionnaires Disease
Hyponatremia ORPHA:549
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Adenohypophysitis
Hyponatremia ORPHA:95512
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Panhypophysitis
Hyponatremia ORPHA:95513
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Cystinosis
Type I diabetes mellitus, Hypokalemia, Hypophosphatemia ORPHA:213
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Reduced blood urea nitrogen, Hypophosphatemia, Glycosuria, Hypok... OMIM:219800
Familial Dysautonomia
Hyponatremia ORPHA:1764
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Japanese Encephalitis
Hyponatremia ORPHA:79139
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia ORPHA:2162
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Hypokalemia, Impaired glucose tolerance OMIM:219090
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia ORPHA:293987
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... ORPHA:3337
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Mercury Poisoning
Hypokalemia ORPHA:330021
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Adrenocortical Carcinoma
Hypokalemia, Diabetes mellitus ORPHA:1501
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level OMIM:201750
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia ORPHA:786
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Leprechaunism
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... ORPHA:508
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti... ORPHA:358
Nelson Syndrome
Hypokalemia, Type II diabetes mellitus ORPHA:199244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... ORPHA:466677
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Pearson Syndrome
Diabetes mellitus, Hypomagnesemia, Glycosuria, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyper... ORPHA:699
Vipoma
Hypokalemia, Diabetes mellitus, Hypercalcemia ORPHA:97282
Marburg Hemorrhagic Fever
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... ORPHA:99826
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Glycosuria ORPHA:47159
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286

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 Macir

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 Macir.

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

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
Macirtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Macirtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Macirtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Macirtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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