Gene Summary

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

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 mean corpuscular hemoglobin concentration Antxr2em1(IMPC)Wtsi HOM Early adult 1.59×10-06
increased red blood cell distribution width Antxr2em1(IMPC)Wtsi HOM Early adult 4.33×10-05
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
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
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, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
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
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
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
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorr... OMIM:612310
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
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, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Secondary amenorrhea, Clitoral hypertrophy, Gonadal... OMIM:612964
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Primary amenorrhea, Abnormal internal genitalia, Gona... OMIM:273250
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Dyspareunia, Metrorrhagia, Abnormality of the uterine cervix... ORPHA:3411
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Menometrorrhagia ORPHA:99927
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea OMIM:158330
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the ute... ORPHA:168563
Premature Ovarian Failure 18
Irregular menstruation, Hypoplasia of the uterus, Secondary amenorrhea, Hypoplasia of the ovary, ... OMIM:619203
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypogonadism, Decr... OMIM:614841
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Perrault Syndrome 4
Oligomenorrhea, Hypoplasia of the uterus, Primary amenorrhea, Bicornuate uterus, Secondary amenor... OMIM:615300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Hypoplasia of the uterus, Female infertility, Premature ovari... OMIM:110100
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Female external genitalia in individual with 46,XY karyotype, Pr... OMIM:300068
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch... ORPHA:91
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal vagina morphology, Abnormal labia morphology, Dyspar... ORPHA:37202
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Irregula... ORPHA:90793
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Non-obstructive azoospermia, Hypoplasia of the ut... ORPHA:432
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... ORPHA:90796
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Primary amenorrhea, Septate vagina, Uterus didelphys, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Erythroid ... ORPHA:79277
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary, Polycysti... ORPHA:572333
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea ORPHA:785
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Erectile dysfunction, Primary a... ORPHA:478
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormality of the menstrual cycle, Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Pr... ORPHA:90794
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia ORPHA:1797
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Accessory spleen, Bifid scrotum, Patent ductus arteriosus, M... OMIM:618280
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Hypog... OMIM:241080
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia ORPHA:1839
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Female sexual dysfunction, Penoscrotal transposition... ORPHA:322
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Abnormal vagina morphology, Abnormality of the spleen, Paten... ORPHA:3097
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Hypoplas... OMIM:202010
Woodhouse-Sakati Syndrome
Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovary, Decreased t... ORPHA:3464
Diabetic Embryopathy
Cryptorchidism, Micropenis, Abnormal morphology of female internal genitalia ORPHA:1926
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea ORPHA:69085
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis OMIM:309801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Uterus didelphys, Septate vagina ORPHA:2237
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Aplasia of the ut... ORPHA:94095
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Patent ductus arteriosus, Bicornuate uterus, Multilobul... OMIM:601186
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... OMIM:258040
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Bifid scro... ORPHA:887
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Decreased HDL cholesterol co... ORPHA:330015
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:991
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... ORPHA:99228
Monosomy X
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... ORPHA:99226
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Hypoplasia of the uterus, Epididymal cyst, Bicornuate uterus, Hypospadias... OMIM:137920
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Aplasia of the uterus OMIM:274000
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Patent ductus arteriosus ORPHA:1790
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia ORPHA:1848
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia ORPHA:3353
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormal morphology of female internal genitalia, Abnormality of ... ORPHA:538
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Accessory spleen, Abnormal vagina morphology OMIM:236680
Loeys-Dietz Syndrome
Patent ductus arteriosus, Uterine rupture ORPHA:60030
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Rectovaginal fistula, Hypospadias, R... OMIM:107480
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
Cryptorchidism, Clitoral hypertrophy, Patent ductus arteriosus, Hypospadias, Aplasia of the uterus OMIM:135900
Wolf-Hirschhorn Syndrome
Cryptorchidism, Accessory spleen, Hypospadias, Precocious puberty, Aplasia of the uterus OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Uterine prolapse OMIM:130050
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Shawl scrotum, Patent ductus arteriosus, Papillary cystadenoma of t... OMIM:180849
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypospadias, Anteriorly displaced genitalia, Aplasia of the u... OMIM:276820
Peters-Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Patent ductus arteriosus, Clitoral hypoplasia, Hypoplas... OMIM:261540
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Patent ductus arteriosus, Hypoplastic labia majora, Aplasia of the... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine rupture, Cystocele, Hypospadias, Uterine prolapse ORPHA:286
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Patent ductus arteriosus, Clitoral hypoplasia, Hypospadias ORPHA:709
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
Antxr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Antxr2em1(IMPC)Wtsi Point Mutation Mice

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