Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 17
Synonyms:
N/A

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
increased circulating alkaline phosphatase level Abca17tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-07
decreased circulating potassium level Abca17tm1b(EUCOMM)Wtsi HOM Early adult 1.23×10-06

Download data as:  TSV  XLS

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
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
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)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 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.

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Abca17 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 Abca17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Liddle Syndrome
Hypokalemia ORPHA:526
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia OMIM:304900
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Mercury Poisoning
Hypokalemia ORPHA:330021
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Cushing Disease
Hypokalemia ORPHA:96253
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ... ORPHA:466677
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hypokalemia ORPHA:534
Proximal Renal Tubular Acidosis
Hyperuricosuria, Hypokalemia, Bicarbonaturia ORPHA:47159
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Nelson Syndrome
Hypokalemia ORPHA:199244
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:85138
Cushing Syndrome Due To Ectopic Acth Secretion
Hypokalemia ORPHA:99889
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794

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 Abca17

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 Abca17.

No publications found that use IMPC mice or data for Abca17.

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MGI Allele Allele Type Produced
Abca17tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abca17tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Abca17tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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