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

Download data as:  TSV  XLS

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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
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
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
Oocyte maturation arrest, Female infertility 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, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... 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
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia 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
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
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
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... 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
Female infertility, Abnormality of the menstrual cycle 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
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ovarian Dysgenesis 6
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Primary amenorrhea,... OMIM:273250
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Premature Ovarian Failure 18
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Hypoplasia of the... OMIM:619203
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Secondary amenorrhea, H... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Primary amenorrhea OMIM:614324
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus, Primary ameno... OMIM:619665
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Perrault Syndrome 3
Primary amenorrhea, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Abnormal external genitalia, Aplasia of the uterus, Primary amenorrhea, Ap... OMIM:158330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Primary amenorrhea, Cryptorchidis... OMIM:614841
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Hypoplasia of the uterus, Irregu... OMIM:110100
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, Pr... OMIM:300068
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... ORPHA:3130
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru... OMIM:618278
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Azoospermia, Hypoplasia of the ovary, Secondar... ORPHA:432
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea 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
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Ambiguous genitalia, male, Female external genitalia in individual with 46,X... ORPHA:90796
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary amenorrhea, Septate vagina OMIM:146255
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Abnormal fallopian tube morphology ORPHA:145
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia 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
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea, Hypergonadotropi... ORPHA:572333
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries, Primary amenorrhea ORPHA:785
Kallmann Syndrome
Erectile dysfunction, Hypoplasia of penis, Dyspareunia, Abnormal morphology of female internal ge... ORPHA:478
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Primary Ciliary Dyskinesia
Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Interstitial Cystitis
Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph... ORPHA:37202
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Abnormal ovarian physiology, Premature pubarche, Precocious puberty in fema... ORPHA:90794
Acromesomelic Dysplasia 3
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hype... 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
HbH hemoglobin, Microcytic anemia ORPHA:98791
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1797
Hypoplasminogenemia
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia ORPHA:1839
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia o... ORPHA:3464
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:3097
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen... ORPHA:322
Diabetic Embryopathy
Cryptorchidism, Micropenis, 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
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia 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, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Patent ductus arteriosus, Cryptorch... OMIM:601186
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Patent ductus arteriosus ORPHA:1790
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Aortic arch aneu... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Aortic arch aneu... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Aortic arch aneu... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Aortic arch aneu... ORPHA:99226
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Pagod Syndrome
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Abnormality ... ORPHA:991
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Vacterl/Vater Association
Hypospadias, Hypoplasia of penis, Bifid scrotum, Ambiguous genitalia, Cryptorchidism, Abnormal mo... ORPHA:887
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt... OMIM:618280
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology 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
Hypospadias, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Epididymal cyst, Hy... OMIM:137920
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia of the uterus, Hypoplastic ... OMIM:618419
Loeys-Dietz Syndrome
Uterine rupture, Patent ductus arteriosus, Aortic aneurysm 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
Aplasia of the uterus, Micropenis OMIM:614083
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Abnormal morphology of femal... ORPHA:538
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia ORPHA:1848
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... 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
Testicular neoplasm, Decreased fertility in males, Ovarian dermoid cyst, Oligozoospermia, Ovarian... ORPHA:1359
Hydrolethalus Syndrome 1
Accessory spleen, Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism OMIM:194190
Norrie Disease
Uterine rupture, Erectile dysfunction, 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, Hypospadias, Aplasia of the uterus, Patent ductus arteriosus, Cryptorchidism OMIM:135900
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Hypospadias, Uterine rupture, Aortic aneurysm, Ascending tubular aorta... ORPHA:286
Peters Plus Syndrome
Hypospadias, Clitoral hypoplasia, Patent ductus arteriosus, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Peters-Plus Syndrome
Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Patent ductus arteriosus, Cryptorchid... OMIM:261540
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Patent ductus... 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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