Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATP-binding cassette, sub-family C member 1
Synonyms:
Mdrap,  MRP,  Abcc1b,  Mrp1,  Abcc1a

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Abcc1 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.

The table below shows human diseases associated to Abcc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 77
OMIM:618915

The table below shows human diseases predicted to be associated to Abcc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... ORPHA:98848
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Skin rash, Abscess, Autoimmune hemolytic an... OMIM:619374
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Ch├ędiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome... OMIM:618935
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma ORPHA:542592
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... OMIM:613470
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... OMIM:214500
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy... OMIM:306400
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Deafness, Autosomal Dominant 77
OMIM:618915

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 Abcc1

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 Abcc1.

No publications found that use IMPC mice or data for Abcc1.

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
Abcc1tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Abcc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abcc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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