Gene Summary

Name:
anthrax toxin receptor 2
Synonyms:
CMG2,  CMG-2,  2310046B19Rik,  cI-35

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 red blood cell distribution width Antxr2em1(IMPC)Wtsi HOM Early adult 4.33×10-05
increased mean corpuscular hemoglobin concentration Antxr2em1(IMPC)Wtsi HOM Early adult 1.59×10-06
increased circulating alkaline phosphatase level Antxr2em1(IMPC)Wtsi HOM Early adult 1.49×10-05

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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.

Phenotype associated images not available

Human diseases caused by Antxr2 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 Antxr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Hyaline Fibromatosis Syndrome
Recurrent infections OMIM:228600
Juvenile Hyaline Fibromatosis
ORPHA:2028

The table below shows human diseases predicted to be associated to Antxr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
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
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Secondary amenorrhea, Female infertility, Premature... OMIM:612310
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Premature Ovarian Failure 7
Primary amenorrhea, Secondary amenorrhea, Gonadal dysgenesis, Premature ovarian insufficiency, Hy... OMIM:612964
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
46,Xy Sex Reversal 11
Aplasia of the uterus, Primary amenorrhea, Abnormal internal genitalia, Vanishing testis, Urogeni... OMIM:273250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Hypop... OMIM:614837
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Primary amenorrhea, Female hypogonadism, Cr... ORPHA:755
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Amenorrhea, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Miscarriage ORPHA:99927
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ... OMIM:619665
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicul... OMIM:614841
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Perrault Syndrome 4
Primary amenorrhea, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uterus, Hyp... OMIM:615300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Hypoplas... OMIM:110100
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Vaginal Atresia
Vaginal hematocele, Primary amenorrhea, Uterus didelphys, Vaginal atresia, Transverse vaginal sep... ORPHA:65681
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Amenorrhea, Imperforate hymen OMIM:237100
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Dyspareunia, Abnormality of the urethra, A... ORPHA:37202
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Irregular menstruation, Primary amenorrhea, Precocious puberty in females,... ORPHA:90793
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Primary amenorrhea, Hypoplasia of the uterus ORPHA:247768
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elliptocytosis... OMIM:109270
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Primary amenorrhea, Hypoplasia of the vagina, Polycystic ovaries,... ORPHA:90796
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Primary amenorrhea, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Congenital Erythropoietic Porphyria
Reticulocytosis, Increased erythrocyte protoporphyrin concentration, Leukopenia, Poikilocytosis, ... ORPHA:79277
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Polycystic ovaries, Secondary amenorrhea, Female i... ORPHA:572333
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the uterus ORPHA:785
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Primary Ciliary Dyskinesia
Abnormal sperm motility, Male infertility, Asplenia, Female infertility, Polysplenia ORPHA:244
Kallmann Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Erectile dysfunction, Abnormal morphology of f... ORPHA:478
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
46,Xy Sex Reversal 4
Hypoplastic labia majora, Gonadal dysgenesis, Sex reversal, Hypergonadotropic hypogonadism, Hypop... OMIM:154230
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Cryptorchidism, Abnormal vagina morphology, Midshaft hypospadias, Abnormal... ORPHA:168558
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Cryptorchidism, Abnormal vagina morphology, Midshaft hypospadias, Abnormal... ORPHA:289548
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Patent ductus arteriosus, Accessory spleen, Cryptorchidism, Micropenis, Bi... OMIM:618280
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Premature ovarian in... OMIM:241080
Exstrophy-Epispadias Complex
Male sexual dysfunction, Bifid penis, Cryptorchidism, Penoscrotal transposition, Absent penis, Bi... ORPHA:322
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Long penis, Ambiguous genitalia, female, Precocious puberty in males, H... OMIM:202010
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea ORPHA:69085
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
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
Microphthalmia, Syndromic 9
Hypoplastic spleen, Patent ductus arteriosus, Cryptorchidism, Bicornuate uterus, Multilobulated s... OMIM:601186
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias, Clitoral hypertrophy OMIM:309801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Absent external genitalia, Urethral atresia OMIM:271520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Septate vagina ORPHA:2237
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Micropenis, Ambiguous genitalia, female, Absent scrotum, Ve... OMIM:258040
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary ame... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary ame... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary ame... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary ame... ORPHA:99226
Pagod Syndrome
Abnormal morphology of female internal genitalia, Abnormality of the uterus, Abnormality of the s... ORPHA:991
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Cryptorchidism, Micropenis, Absent penis, Abnormal scrotal rugation, Ambig... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Unicornuate uterus, U... OMIM:614527
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Coffin-Siris Syndrome 9
Hypoplasia of the uterus OMIM:615866
Loeys-Dietz Syndrome
Aortic aneurysm, Patent ductus arteriosus, Uterine rupture ORPHA:60030
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly OMIM:274000
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Hypospadias, Accessory spleen OMIM:236680
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Testicular neopl... ORPHA:1359
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Patent ductus arteriosus OMIM:256520
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Norrie Disease
Erectile dysfunction, Cryptorchidism, Uterine rupture ORPHA:649
Coffin-Siris Syndrome 1
Aplasia of the uterus, Patent ductus arteriosus, Cryptorchidism, Hypospadias, Clitoral hypertrophy OMIM:135900
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Accessory spleen, Cryptorchidism, Precocious puberty, Hypospadias OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Uterine rupture, Cystocele OMIM:130050
Townes-Brocks Syndrome 1
Rectovaginal fistula, Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Rectoperineal ... OMIM:107480
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Patent ductus arteriosus, Cryptorchidism, Shawl scrotum,... OMIM:180849
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia of the uterus, Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Pulmonary artery aneurysm, Uterine prolapse, Aortic aneurysm, Cystocele, Uterine ... ORPHA:286
Peters-Plus Syndrome
Hypoplastic labia majora, Hypoplasia of the vagina, Patent ductus arteriosus, Cryptorchidism, Cli... OMIM:261540
Peters Plus Syndrome
Patent ductus arteriosus, Cryptorchidism, Clitoral hypoplasia, Hypoplasia of the uterus, Hypospadias ORPHA:709
Pallister-Killian Syndrome
Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Patent ductus arteriosus, Cryptor... OMIM:601803
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Hyaline Fibromatosis Syndrome
Recurrent infections OMIM:228600
Juvenile Hyaline Fibromatosis
ORPHA:2028

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 Antxr2

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 Antxr2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Antxr2em1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Antxr2em1(IMPC)Wtsi Point Mutation Mice
Antxr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Antxr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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