Gene Summary

Name:
G elongation factor, mitochondrial 2
Synonyms:
6530419G12Rik,  MST027,  EFG2,  A930009M04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal adrenal gland morphology Gfm2em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Gfm2em1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Gfm2 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 Gfm2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism ORPHA:565624
Combined Oxidative Phosphorylation Deficiency 39
OMIM:618397

The table below shows human diseases predicted to be associated to Gfm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, In... ORPHA:189427
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Elevated circulating follicle stimulating hormone l... ORPHA:95699
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Paradoxical increased cortisol secretion on dexamethasone suppression test, Medullary thyroid car... ORPHA:99889
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism ORPHA:565624
Combined Oxidative Phosphorylation Deficiency 39
OMIM:618397

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 Gfm2

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 Gfm2.

No publications found that use IMPC mice or data for Gfm2.

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MGI Allele Allele Type Produced
Gfm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gfm2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Gfm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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