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Gene: Antxr2 MGI:1919164

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Gene Summary

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

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 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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea OMIM:617442
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:612964
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
46,Xy Sex Reversal 11
Vanishing testis, Primary amenorrhea, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dy... OMIM:273250
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Premature Ovarian Failure 18
Irregular menstruation, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of t... OMIM:619203
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary, Primary ameno... OMIM:619665
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Perrault Syndrome 4
Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hyp... OMIM:615300
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas... OMIM:110100
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Labial hypoplasia, Blind vagina, Pr... OMIM:300068
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... OMIM:278850
Estrogen Resistance
Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Decreased fertility, Cryptorchidism, Polycystic ovaries, Enlarged poly... ORPHA:90796
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea OMIM:146255
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat... ORPHA:572333
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea ORPHA:785
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:478
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Abnormality of the menstrual cyc... ORPHA:90794
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1797
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia ORPHA:1839
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Prem... ORPHA:3464
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, Cryptorchidism, Ambiguou... ORPHA:3097
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Trisomy 13
Patent ductus arteriosus, Displacement of the urethral meatus, Cryptorchidism, Abnormal morpholog... ORPHA:3378
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Diabetic Embryopathy
Micropenis, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:1926
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea ORPHA:69085
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormal morphology of female internal genitalia ORPHA:1834
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Abnormal morphology of female internal genitalia ORPHA:1790
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Aortic arch aneurysm, Premature ovarian insufficien... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Aortic arch aneurysm, Premature ovarian insufficien... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Aortic arch aneurysm, Premature ovarian insufficien... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Aortic arch aneurysm, Premature ovarian insufficien... ORPHA:99226
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:2311
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnormality of the s... ORPHA:991
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Vacterl/Vater Association
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Ambiguous genita... ORPHA:887
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitora... OMIM:618419
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
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system, Abnormal mo... ORPHA:538
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia ORPHA:1848
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly, Patent ductus arteriosus OMIM:274000
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia ORPHA:3353
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology, Accessory spleen OMIM:236680
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Splenomegaly, Abnormal testis morphology, Displ... ORPHA:1775
Ellis Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Abnormal morphology of female internal genitalia ORPHA:289
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Aortic arch aneurysm, Cryptorchi... ORPHA:138
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:194190
Norrie Disease
Erectile dysfunction, Uterine rupture, Cryptorchidism ORPHA:649
Neu-Laxova Syndrome 1
Bifid uterus, Patent ductus arteriosus, Cryptorchidism OMIM:256520
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias, Patent ductus arteriosus OMIM:135900
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Aortic a... ORPHA:286
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Patent ductus arteriosus, Clitoral hypoplasia ORPHA:709
Peters-Plus Syndrome
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasia of the uterus, Hyp... OMIM:261540
Pallister-Killian Syndrome
Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up... 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

Order Mouse and ES Cells

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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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