Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 8b
Synonyms:
Abca8

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Wholemount images heterozygote 50% (2 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 50% (2 of 4)
Eye  Wholemount images heterozygote 50% (2 of 4)
Harderian gland  Wholemount images heterozygote 50% (2 of 4)
Liver  Wholemount images heterozygote 25% (1 of 4)
Mesenteric adipose tissue  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Penis  Wholemount images heterozygote 25% (1 of 4)
Quadriceps  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Tongue  Wholemount images heterozygote 50% (2 of 4)
Trigeminal V nerve  Wholemount images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
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 25% (1 of 4)
Jejunum N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 25% (1 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
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 4)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 25% (1 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 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

16 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Hind Leg and Hip

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Adult LacZ

LacZ Images Section

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

21 Images

X-ray

XRay Images Forepaw

13 Images

Human diseases caused by Abca8b 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 Abca8b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Increased circulatin... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Hypocholesterolemia, Elevated circulating creatine kinase concentration, De... ORPHA:96180
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Abetalipoproteinemia
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypoalbuminemia... ORPHA:14
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400

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 Abca8b

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 Abca8b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels. Arteriosclerosis, thrombosis, and vascular biology (September 2017) Abca8btm1a(EUCOMM)Wtsi 28882873

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Abca8btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Abca8btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Abca8btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Abca8btm131(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Abca8btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter