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Gene: Mthfd2l MGI:1915871

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Gene Summary

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

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

Download data as:  TSV  XLS

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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 0.37% (2 of 547)
aorta 0.0%
bone 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 559)
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 545)
oral epithelium 0.0%
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
striatum 0.55% (3 of 546)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
trachea 0.54% (3 of 555)
uterus 0.37% (2 of 541)
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.

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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Echo

M-Mode Images

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Adult LacZ

LacZ Images Wholemount

7 Images

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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
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Attrv30M Amyloidosis
Weight loss, Cardiomyopathy, Cardiomegaly ORPHA:85447
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Infantile Sialic Acid Storage Disease
Failure to thrive, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiom... OMIM:212140
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Large for gestational age, Peric... OMIM:239850
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Hepatomegaly, Cardiomegaly ORPHA:42
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Small for gestational age OMIM:613320
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Small for gestational age OMIM:616897
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, La... ORPHA:363705
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Complete Atrioventricular Septal Defect
Failure to thrive, Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Disp... ORPHA:1329
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Splenomegaly, Weight loss, Cardiomyopathy, Cardiomegaly ORPHA:465508
Fucosidosis
Failure to thrive, Hepatomegaly, Cardiomegaly ORPHA:349
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardi... ORPHA:308552
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:608013
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Congenital Tracheomalacia
Failure to thrive, Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septa... ORPHA:95430
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Cardiomegaly ORPHA:2463
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Card... OMIM:252500
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, A... ORPHA:581
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventric... OMIM:300967
Histiocytoid Cardiomyopathy
Ventricular septal defect, Failure to thrive, Hepatomegaly, Cardiomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardi... ORPHA:365
Abetalipoproteinemia
Failure to thrive, Hepatomegaly, Cardiomegaly ORPHA:14
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Severe failure to thrive, Cardiomegaly ORPHA:97297
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged kidney, Vent... OMIM:300855
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Cachexi... ORPHA:75565
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Large for gestational age, Visceromegaly, Obesity, H... ORPHA:116
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Liver Disease, Severe Congenital
Failure to thrive, Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, S... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Yunis-Varon Syndrome
Atrial septal defect, Severe failure to thrive, Tetralogy of Fallot, Ventricular septal defect, C... ORPHA:3472
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Singleton-Merten Syndrome 1
Aortic valve calcification, Decreased body weight, Aortic valve stenosis, Mitral valve calcificat... OMIM:182250
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Failure to thrive in infancy, Ventricular hypertrophy, Pericardial effu... 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
Mthfd2ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mthfd2ltm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Mthfd2ltm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mthfd2ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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