Gene: Mthfd2l MGI:1915871

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Gene Summary

Name:
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like
Synonyms:
C630010D07Rik,  1110019K23Rik

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
enlarged heart Mthfd2ltm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal skin morphology Mthfd2ltm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased lean body mass Mthfd2ltm1b(EUCOMM)Wtsi HOM Early adult 5.34×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount 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)
Bone 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)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart 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 0.0% (0 of 2)
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary 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)
Parathyroid gland 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 0.0% (0 of 2)
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)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

1 Images

Human diseases caused by Mthfd2l 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 Mthfd2l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
OMIM:227150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
ORPHA:88643
Attrv30M Amyloidosis
ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 33
OMIM:617713
Cardiomyopathy, Familial Hypertrophic 27
OMIM:618052
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
OMIM:613576
Congenital Tricuspid Valve Dysplasia
ORPHA:555874
Carnitine Deficiency, Systemic Primary
OMIM:212140
Infantile Sialic Acid Storage Disease
OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
OMIM:619064
Congenital Toxoplasmosis
ORPHA:858
Intellectual Developmental Disorder, X-Linked, Syndromic 32
OMIM:300886
Familial Atrial Myxoma
ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
OMIM:115197
Danon Disease
OMIM:300257
Timothy Syndrome
OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
OMIM:619170
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
OMIM:600649
Mulibrey Nanism
OMIM:253250
Cantu Syndrome
OMIM:239850
Neurooculocardiogenitourinary Syndrome
OMIM:618652
Neuraminidase Deficiency
OMIM:256550
Mucopolysaccharidosis, Type Iiib
OMIM:252920
Alpha-N-Acetylgalactosaminidase Deficiency
ORPHA:3137
Hemochromatosis, Type 1
OMIM:235200
Aorta Coarctation
ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
OMIM:619051
Medium Chain Acyl-Coa Dehydrogenase Deficiency
ORPHA:42
Gaucher Disease, Type Iiic
OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
OMIM:306955
Carnitine Palmitoyltransferase I Deficiency
OMIM:255120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
OMIM:613320
Refsum Disease, Classic
OMIM:266500
Combined Oxidative Phosphorylation Deficiency 41
OMIM:618838
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
OMIM:616897
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
ORPHA:324410
Hsd10 Disease, Infantile Type
ORPHA:391428
Amyloidosis, Hereditary, Transthyretin-Related
OMIM:105210
Complete Atrioventricular Septal Defect
ORPHA:1329
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
OMIM:201475
Symptomatic Form Of Hemochromatosis Type 1
ORPHA:465508
Fucosidosis
ORPHA:349
Glycogen Storage Disease Of Heart, Lethal Congenital
OMIM:261740
Lethal Congenital Contracture Syndrome 10
OMIM:617022
Gaucher Disease, Perinatal Lethal
OMIM:608013
Familial Aortic Dissection
ORPHA:229
Beck-Fahrner Syndrome
OMIM:618798
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
OMIM:608836
Pseudo-Torch Syndrome 3
OMIM:618886
Sickle Cell Anemia
OMIM:603903
Craniofaciofrontodigital Syndrome
OMIM:114620
Glycogen Storage Disease Ii
OMIM:232300
Fucosidosis
OMIM:230000
Hypertrichotic Osteochondrodysplasia, Cantu Type
ORPHA:1517
Sandhoff Disease
OMIM:268800
Naxos Disease
OMIM:601214
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
OMIM:619259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
OMIM:618278
Histiocytosis-Lymphadenopathy Plus Syndrome
OMIM:602782
Leigh Syndrome With Nephrotic Syndrome
ORPHA:255249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
OMIM:245600
Mucolipidosis Ii Alpha/Beta
OMIM:252500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
ORPHA:2463
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
ORPHA:268
Developmental And Epileptic Encephalopathy 95
OMIM:618143
Lethal Acantholytic Erosive Disorder
ORPHA:158687
Truncus Arteriosus
ORPHA:3384
Mucopolysaccharidosis Type 3
ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
OMIM:300967
Greenberg Dysplasia
OMIM:215140
Abetalipoproteinemia
ORPHA:14
Bohring-Opitz Syndrome
ORPHA:97297
Histiocytoid Cardiomyopathy
ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
ORPHA:99125
Tropical Endomyocardial Fibrosis
ORPHA:75565
Paternal Uniparental Disomy Of Chromosome 6
ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection
ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
ORPHA:79280
Beckwith-Wiedemann Syndrome
ORPHA:116
Beckwith-Wiedemann Syndrome
OMIM:130650
Aicardi-Goutières Syndrome
ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
OMIM:256040
Yunis-Varon Syndrome
ORPHA:3472
Williams Syndrome
ORPHA:904
Singleton-Merten Syndrome 1
OMIM:182250
Generalized Arterial Calcification Of Infancy
ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mthfd2l

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 Mthfd2l.

No publications found that use IMPC mice or data for Mthfd2l.

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MGI Allele Allele Type Produced
Mthfd2ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mthfd2ltm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Mthfd2ltm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice

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