Gene Summary

Name:
ATP-binding cassette, sub-family B member 9
Synonyms:
TAPL

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 grip strength Abcb9tm1b(KOMP)Wtsi HOM Early adult 5.19×10-08
decreased prepulse inhibition Abcb9tm1b(KOMP)Wtsi HOM Early adult 8.56×10-06
small adrenal glands Abcb9tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged lymph nodes Abcb9tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Hind Leg and Hip

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Histopathology

Images

5 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Human diseases caused by Abcb9 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 Abcb9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Abnorma... ORPHA:99889
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia ORPHA:79500

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 Abcb9

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 Abcb9.

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

Title Journal IMPC Allele PubMed ID
Unexpected lack of specificity of a rabbit polyclonal TAP-L (ABCB9) antibody. F1000Research (May 2015) Abcb9tm1b(KOMP)Wtsi PMC4893942

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
Abcb9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Abcb9tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abcb9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Abcb9tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Abcb9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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