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Gene: Atp11b MGI:1923545

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Gene Summary

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

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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
persistence of hyaloid vascular system Atp11bem1(IMPC)Tcp HOM Early adult 6.85×10-05
decreased mean corpuscular hemoglobin Atp11bem1(IMPC)Tcp HOM   Early adult 6.42×10-06
decreased mean corpuscular hemoglobin concentration Atp11bem1(IMPC)Tcp HOM Early adult 8.74×10-05
enlarged ovary Atp11bem1(IMPC)Tcp HOM Early adult 0.00

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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 Ophthalmoscopy

112 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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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 alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia 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
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... 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
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... OMIM:250790
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... ORPHA:91348
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Anemia, Cervix cancer, Enlarged polycystic ovaries ORPHA:2869
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenom... ORPHA:848
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Leukopenia, Enlarged ovaries, Polycystic ovaries, Thrombocyto... ORPHA:2298
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonado... ORPHA:64739
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Precocious puberty, Clitoral hypertrophy, Increased pineal volume ORPHA:769
Premature Ovarian Failure 5
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... OMIM:611548
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hypopla... ORPHA:785
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Polycystic ovaries, Hypopla... ORPHA:90796
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum ORPHA:2745
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Aniridia, Abnormality of t... OMIM:194072
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Leprechaunism
Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, Overgrowth ... ORPHA:508
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorc... ORPHA:3085
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Elevated circulating follicle... ORPHA:95699
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Female... ORPHA:91
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Preeclampsia
Thrombocytopenia, Polycystic ovaries ORPHA:275555
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... OMIM:228300
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Erythroid hyperplasia, Cholelithiasis, Persistenc... ORPHA:231222
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism ORPHA:98791
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ataxia-Telangiectasia
Abnormal testis morphology, Polycystic ovaries, Lymphopenia ORPHA:100
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Premature Ovarian Failure 18
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619203
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Cowden Syndrome
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the ut... ORPHA:201
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:268020
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... ORPHA:335
Proteus Syndrome
Ovarian neoplasm, Abnormality of retinal pigmentation, Retinal nonattachment, Chorioretinal colob... ORPHA:744
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegal... ORPHA:231214
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... OMIM:141750
Peutz-Jeghers Syndrome
Iron deficiency anemia, Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious pube... OMIM:175200
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hyp... ORPHA:231226
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... ORPHA:90793
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitali... ORPHA:847
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Bangstad Syndrome
Abnormal testis morphology, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:1227
Donohue Syndrome
Clitoral hypertrophy, Precocious puberty, Long penis, Ovarian cyst OMIM:246200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Aplastic anemia ORPHA:99867
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytope... OMIM:260400
Cowden Syndrome 1
Goiter, Varicocele, Ovarian carcinoma, Lymphopenia, Ovarian cyst, Hydrocele testis OMIM:158350
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Polycystic ovaries, Clitoral hypertrophy, Overgrowth... ORPHA:528
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Shawl... OMIM:301040
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Splenomegaly, Retinal detachment, Abnormality of the para... ORPHA:2969
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Long penis, Polycystic ovaries, Ambiguous genitalia, female, Clito... ORPHA:90795
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Polycystic ovaries, Splenomegaly ORPHA:2348
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Polycystic ovaries, Abnormal testis morphology, Precocious pub... ORPHA:457059
Mccune-Albright Syndrome
Macroorchidism, Goiter, Abnormal testis morphology, Hyperplasia of the Leydig cells, Pancytopenia... ORPHA:562
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Polycystic ovaries, Anemia, Splenomegaly, Abnormal erythrocyte enzyme level ORPHA:264580
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Ovarian cyst, Eosinophilia, Abnormality of the testis size ORPHA:400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Nodular goiter, Iris coloboma, Papilledema, Premature thelarche ORPHA:371428
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Polycystic ovaries, Anemia, Splenomegaly ORPHA:79240
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Splenomegaly ORPHA:79083
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased ... ORPHA:124
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Polycystic ovaries, Abnormal erythrocyte enzyme level, Splenomegaly ORPHA:370
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Cowden Syndrome 5
Ovarian cyst, Goiter, Hydrocele testis OMIM:615108
Primary Lipodystrophy
Polycystic ovaries, Splenomegaly ORPHA:90970
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... ORPHA:91495
Lead Poisoning
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma OMIM:221900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Polycystic ovaries, Splenomegaly ORPHA:280365
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Elevated circulating growth hormone concentratio... ORPHA:249
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Carney Complex
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... ORPHA:1359
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Abnormal myeloid leukocyte morphology, Polycystic ovaries, Ane... ORPHA:79259
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Streak ovary, Elevated circulating follicle stimulating hormone level, Po... ORPHA:572333
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Clitoral hypertrophy OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Clitoral hypertrophy OMIM:269700
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Polycystic ovaries, Labial pseudohypertrophy OMIM:151660
Histiocytoid Cardiomyopathy
Cardiomegaly, Optic atrophy, Polycystic ovaries, Hepatomegaly ORPHA:137675
Microphthalmia, Syndromic 2
Hypospadias, Iris coloboma, Retinal detachment, Septate vagina, Remnants of the hyaloid vascular ... OMIM:300166
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... OMIM:201750
Norrie Disease
Optic atrophy, Uterine rupture, Ectopia lentis, Retinal detachment, Remnants of the hyaloid vascu... ORPHA:649
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma OMIM:619539
Williams Syndrome
Urethral stenosis, Hypogonadotropic hypogonadism, Polycystic ovaries, Cardiomegaly, Cholelithiasi... ORPHA:904
Alström Syndrome
Oligospermia, Hepatomegaly, Hyoplasia of the Leydig cells, Optic disc pallor, Precocious puberty ... 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.

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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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