Gene Summary

Name:
hemicentin 2
Synonyms:
N/A

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
increased hematocrit Hmcn2tm1b(EUCOMM)Wtsi HOM Early adult 1.72×10-08
increased hemoglobin content Hmcn2tm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-12
increased cornea thickness Hmcn2tm1b(EUCOMM)Wtsi HOM Early adult 3.76×10-05

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
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 0.0% (0 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
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)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Cecum N/A heterozygote 0.0% (0 of 1)
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 Not available
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)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver 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)
Mesenteric lymph node 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 Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 50% (1 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 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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.

Eye Morphology

VIP of right fundus

14 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right eye

14 Images

Human diseases caused by Hmcn2 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 Hmcn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated pla... ORPHA:90041
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Decreased corneal thickness ORPHA:293967
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Decreased corneal thickness, Corneal erosion ORPHA:90354
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hypochromi... ORPHA:231214
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anterior chamber flare, Cataract, Iris nevus, Posterior synechiae of the anter... ORPHA:91500
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca... ORPHA:2363
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Corneal dystrophy ORPHA:52
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Warburg-Cinotti Syndrome
Corneal neovascularization, Symblepharon, Decreased corneal thickness, Limbal stem cell deficiency OMIM:618175
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Costello Syndrome
Keratoconus ORPHA:3071
Gapo Syndrome
Keratoconus ORPHA:2067
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Gapo Syndrome
Keratoconus OMIM:230740
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Keratoconus OMIM:130050
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus 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 Hmcn2

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 Hmcn2.

No publications found that use IMPC mice or data for Hmcn2.

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MGI Allele Allele Type Produced
Hmcn2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hmcn2tm33638(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hmcn2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Hmcn2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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