Gene Summary

Name:
TSPO associated protein 1
Synonyms:
Bzrap1,  peripheral

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
decreased total body fat amount Tspoap1em1(IMPC)H HOM   Late adult 2.25×10-05
increased blood urea nitrogen level Tspoap1em1(IMPC)H HOM Early adult 3.42×10-05
decreased prepulse inhibition Tspoap1em1(IMPC)H HOM Early adult 2.28×10-05
increased circulating alkaline phosphatase level Tspoap1em1(IMPC)H HOM Late adult 9.30×10-08
increased grip strength Tspoap1em1(IMPC)H HOM Late adult 4.42×10-05
decreased circulating total protein level Tspoap1em1(IMPC)H HOM Early adult 6.06×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Echo

M-Mode Images

112 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Tspoap1 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 Tspoap1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dystonia 22, Adult-Onset
OMIM:620456
Dystonia 22, Juvenile-Onset
OMIM:620453
Autosomal Recessive Dopa-Responsive Dystonia
ORPHA:101150

The table below shows human diseases predicted to be associated to Tspoap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Omenn Syndrome
Hypoproteinemia OMIM:603554
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Pierson Syndrome
Hypoproteinemia OMIM:609049
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Leptospirosis
Hyperproteinemia ORPHA:509
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Autosomal Recessive Dopa-Responsive Dystonia
ORPHA:101150
Dystonia 22, Adult-Onset
OMIM:620456
Dystonia 22, Juvenile-Onset
OMIM:620453

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 Tspoap1

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 Tspoap1.

No publications found that use IMPC mice or data for Tspoap1.

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
Tspoap1tm65(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tspoap1em2(IMPC)H Indel Mice
Tspoap1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tspoap1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tspoap1em1(IMPC)H Indel Mice

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