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Gene: Aoc1l1 MGI:3618290

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Gene Summary

Name:
amine oxidase copper containing 1-like 1
Synonyms:
Doxl2

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
abnormal testis morphology Aoc1l1tm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Aoc1l1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Aoc1l1tm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Aoc1l1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged heart Aoc1l1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased prepulse inhibition Aoc1l1tm1.1(KOMP)Vlcg HOM   Early adult 3.88×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cecum 5.88% (22 of 374)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
chest bone Unavailable
colon 15.44% (21 of 136)
diaphragm 0.0%
duodenum 2.99% (4 of 134)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.73% (1 of 137)
heart 0.35% (2 of 571)
hindlimb 0.0%
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
ileum 14.71% (20 of 136)
jejunum 8.82% (12 of 136)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 312)
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.52% (3 of 582)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
tongue 3.62% (5 of 138)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.45% (17 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

12 Images

View images
Adult LacZ

LacZ Images Section

7 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

Human diseases caused by Aoc1l1 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 Aoc1l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic card... OMIM:620135
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospermia, I... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy OMIM:614096
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... OMIM:618652
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, A... ORPHA:860
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventric... ORPHA:324410
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Splenomegaly, Infertility, E... ORPHA:465508
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... OMIM:300280
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... ORPHA:555874
Mulibrey Nanism
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction OMIM:253250
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Cardiomegaly, Fatigable weakness, Hepatomegaly ORPHA:42
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... OMIM:115197
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Hypothyroidism, Cardiomegaly OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy OMIM:619051
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Neuraminidase Deficiency
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256550
Wolfram Syndrome 1
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Diabetes insipidus, Hypothyroidism OMIM:222300
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Hypospadias OMIM:616897
Mogs-Cdg
Hepatosplenomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Le... ORPHA:79330
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Hypothyroidism, Cardiomegaly OMIM:617713
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, V... OMIM:602782
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... OMIM:306955
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Sickle Cell Disease
Hepatomegaly, Priapism, Cholelithiasis, Cardiomegaly, Splenomegaly OMIM:603903
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Hepatome... ORPHA:96191
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Craniofaciofrontodigital Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... ORPHA:363705
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepat... OMIM:130650
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Impotence, Hepatomegaly OMIM:268800
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... ORPHA:1329
Fucosidosis
Cardiomegaly, Hepatomegaly, Hypothyroidism ORPHA:349
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, D... OMIM:614921
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Cryptorchidism, Hepatomegaly OMIM:618143
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Neonatal death, Cardiomegaly, Splenomegaly OMIM:608013
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Atrial septal def... OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... OMIM:620066
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... OMIM:261740
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney OMIM:608836
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricul... ORPHA:3384
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly ORPHA:228308
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Abnormal myocardium morphology, Fatigable weaknes... ORPHA:581
Ogden Syndrome
Secundum atrial septal defect, Maternal diabetes, Cryptorchidism, Decreased testicular size, Left... OMIM:300855
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Endometrial carcinoma, Decreased serum testost... ORPHA:273
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Left ventricular hypertrophy, Hepatomegaly, Fatigable ... ORPHA:365
Histiocytoid Cardiomyopathy
Polycystic ovaries, Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:137675
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Pseudohypoparathyroid... ORPHA:116
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly, Cholelithiasis, Annular pancreas ORPHA:97297
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Yunis-Varon Syndrome
Cryptorchidism, Micropenis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot,... ORPHA:3472
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Diabetes mellitus, Hypertrophic cardiomyopathy, Hypothyroidism, C... ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Left atrial enlargement, Atrial septal defect, Ventricular septal defect, ... OMIM:619991
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Hypothyroidism ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Williams Syndrome
Cryptorchidism, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal ... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Elevated circulating thyroid-stimulating hormone concentration, Irregula... OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Pancreatic calcification, Adrenal calcification, Ventricular hypertrophy, Pericardial effusion, C... ORPHA:51608
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aor... OMIM:182250

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 Aoc1l1

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 Aoc1l1.

No publications found that use IMPC mice or data for Aoc1l1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Aoc1l1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Aoc1l1tm464986(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Aoc1l1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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