Gene Summary

Name:
ATPase, class VI, type 11B
Synonyms:
1110019I14Rik

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
decreased mean corpuscular hemoglobin Atp11bem1(IMPC)Tcp HOM Early adult 5.02×10-05
enlarged ovary Atp11bem1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular hemoglobin concentration Atp11bem1(IMPC)Tcp HOM Early adult 6.14×10-05
persistence of hyaloid vascular system Atp11bem1(IMPC)Tcp HOM Early adult 8.84×10-05

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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.

Eye Morphology

Images Slit Lamp

96 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

112 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Atp11b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp11b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer, Anemia ORPHA:2869
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... OMIM:620501
Insulin-Resistance Syndrome Type B
Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries, Thrombocytopenia, ... ORPHA:2298
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Methemoglobinemia, Male pseudoherm... OMIM:250790
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadi... ORPHA:848
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonado... ORPHA:64739
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Enlarged ovaries, Increased pineal volume ORPHA:769
Opitz Gbbb Syndrome
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias ORPHA:2745
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... OMIM:194072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... ORPHA:95699
Leprechaunism
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... ORPHA:508
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidism, Polycystic ovarie... ORPHA:3085
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... ORPHA:231222
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Hypospadias, Cryptorchidism ORPHA:98791
Ataxia-Telangiectasia
Lymphopenia, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Cowden Syndrome
Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol... ORPHA:201
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Microphthalmia/Coloboma 12
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Proteus Syndrome
Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Splenomegaly, Abno... ORPHA:744
Preeclampsia
Thrombocytopenia, Polycystic ovaries ORPHA:275555
Bone Marrow Failure Syndrome 3
Retinal dysplasia, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin ... OMIM:617052
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Peutz-Jeghers Syndrome
Uterine neoplasm, Ovarian cyst, Iron deficiency anemia, Precocious puberty with Sertoli cell tumo... OMIM:175200
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormality of the male genitalia, Cryptorchidism, Abnormal hemoglobin, Male pseud... ORPHA:847
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Cowden Syndrome 1
Varicocele, Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele testis OMIM:158350
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin... ORPHA:2969
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst OMIM:246200
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova... ORPHA:90795
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neutropenia, Thrombocy... OMIM:260400
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Prostate neoplasm ORPHA:99867
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Polycystic... ORPHA:528
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:2348
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Premature thelarche, Papilledema, Nodular goiter, Iris coloboma ORPHA:371428
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Cystic Echinococcosis
Abnormality of the testis size, Splenic cyst, Ovarian cyst, Eosinophilia, Hepatomegaly ORPHA:400
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Mccune-Albright Syndrome
Precocious puberty, Increased circulating prolactin concentration, Goiter, Pancytopenia, Ovarian ... ORPHA:562
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Polycystic ovaries, Anemia, Abnormal erythrocyte enzyme concentration or activity, ... ORPHA:264580
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Abnormal labia majora morphology ORPHA:435660
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:79083
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Polycystic ovaries ORPHA:79240
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Atelis Syndrome 2
Anemia, Thrombocytopenia, Remnants of the hyaloid vascular system OMIM:620185
Cowden Syndrome 6
Varicocele, Hydrocele testis, Ovarian cyst, Goiter OMIM:615109
Lead Poisoning
Imbalanced hemoglobin synthesis, Oligozoospermia, Abnormal T cell morphology, Anemia, Abnormal sp... ORPHA:330015
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Shawl scrotum, Hypochromic microcytic anemia, Micropenis, Reduced... OMIM:301040
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Short Syndrome
Ovarian cyst OMIM:269880
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepatomegaly, Elevate... OMIM:269700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:280365
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon... ORPHA:249
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Polycystic ovaries, Anemia, Hepatomegaly, Abnormal myeloid leukocyte morphology, Enlarged kidney,... ORPHA:79259
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79086
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepatomegaly OMIM:608594
Histiocytoid Cardiomyopathy
Hepatomegaly, Optic atrophy, Cardiomegaly, Polycystic ovaries ORPHA:137675
Pierson Syndrome
Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy... OMIM:609049
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascular... OMIM:300166
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... OMIM:188400
Alkaptonuria
Methemoglobinemia, Prostatitis, Hemolytic anemia, Black pigment gallstones ORPHA:56
Bardet-Biedl Syndrome
Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreased testicular size, Cryp... ORPHA:110
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... OMIM:157170
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascu... ORPHA:649
Neuroocular Syndrome 1
Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system OMIM:619539
Williams Syndrome
Precocious puberty, Cholelithiasis, Cryptorchidism, Polycystic ovaries, Cardiomegaly, Hypogonadot... ORPHA:904
Alström Syndrome
Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Leydig cells, Decreased res... ORPHA:64

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 Atp11b

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 Atp11b.

No publications found that use IMPC mice or data for Atp11b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Atp11btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp11bem1(IMPC)Tcp Exon Deletion Mice
Atp11btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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