Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RAB44, member RAS oncogene family
Synonyms:
9830134C10Rik

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 Rab44 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 Rab44 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... ORPHA:98848
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Ch├ędiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Mastocytosis
Mastocytosis, Chronic leukemia, Acute leukemia, Splenomegaly ORPHA:98292
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Impaired oxidati... OMIM:618935
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... OMIM:613470
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... OMIM:233710
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... OMIM:233690
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... ORPHA:2968

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 Rab44

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 Rab44.

No publications found that use IMPC mice or data for Rab44.

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MGI Allele Allele Type Produced
Rab44tm387002(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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