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Gene: Abce1 MGI:1195458

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Gene Summary

Name:
ATP-binding cassette, sub-family E member 1
Synonyms:
Rnaseli,  RNS4l (Eye),  Oabp

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Abce1tm1.1(KOMP)Vlcg HET   Early adult 2.44×10-07
embryonic lethality prior to organogenesis Abce1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
increased large unstained cell number Abce1tm1b(EUCOMM)Hmgu HET Early adult 1.57×10-09
decreased circulating creatinine level Abce1tm1b(EUCOMM)Hmgu HET Early adult 2.48×10-05
preweaning lethality, complete penetrance Abce1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
preweaning lethality, complete penetrance Abce1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged lymph nodes Abce1tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal seminal vesicle morphology Abce1tm1.1(KOMP)Vlcg HET Early adult 0.00
increased neutrophil cell number Abce1tm1.1(KOMP)Vlcg HET Early adult 4.30×10-07
anophthalmia Abce1tm1b(EUCOMM)Hmgu HET   Early adult 4.38×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Gross Pathology and Tissue Collection

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8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Histopathology

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2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

2 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Abce1 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 Abce1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, L... OMIM:602450
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Abnormal spleen morphology ORPHA:2470
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Abnormal circulating creatine kinase concentration ORPHA:899
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Trisomy 1Q
Anophthalmia ORPHA:261344
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... ORPHA:3226
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Cockayne Syndrome Type 1
Anophthalmia, Anemia, Increased blood urea nitrogen ORPHA:90321
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Monocytopen... OMIM:226990
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen OMIM:601186
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Holoprosencephaly
Hyponatremia, Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Agammaglobulinemia, X-Linked
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatit... OMIM:300755
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... ORPHA:36234
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Meckel Syndrome
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Bone marrow hypocellularity ORPHA:829
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration ORPHA:247691
Papillorenal Syndrome
Microphthalmia, Elevated circulating creatinine concentration OMIM:120330
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... OMIM:301074
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Hypocalcemia, Microphthalmia, Lymphopenia OMIM:214800
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Familial Mediterranean Fever
Orchitis, Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... ORPHA:50918
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534

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.

Phenotype Allele Zygosity Sex Life Stage
Skin - MPATH pathological process term hydropic degeneration Abce1tm1.1(KOMP)Vlcg HET Early adult
Skin - MPATH pathological entity term hamartoma Abce1tm1.1(KOMP)Vlcg HET Early adult
Eye - MPATH pathological process term hyperplasia Abce1tm1.1(KOMP)Vlcg HET Early adult
Skin - MPATH pathological process term extracellular matrix deposition Abce1tm1.1(KOMP)Vlcg HET Early adult

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 Abce1.

No publications found that use IMPC mice or data for Abce1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Abce1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Abce1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Abce1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Abce1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Abce1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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