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Gene: BC048562 MGI:3618861

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Gene Summary

Name:
cDNA sequence BC048562
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 freezing behavior BC048562tm1b(KOMP)Wtsi HOM Late adult 6.23×10-05
decreased locomotor activity BC048562tm1b(KOMP)Wtsi HOM   Late adult 3.28×10-06
abnormal sensory capabilities/reflexes/nociception BC048562tm1b(KOMP)Wtsi HOM   Early adult 3.13×10-05 *
decreased locomotor activity BC048562tm1b(KOMP)Wtsi HOM   Early adult 2.75×10-06
decreased fasting circulating glucose level BC048562tm1b(KOMP)Wtsi HOM Late adult 1.12×10-05
abnormal locomotor behavior BC048562tm1b(KOMP)Wtsi HOM   Early adult 1.57×10-05

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Ovary  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)
Lymph node 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)
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)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland 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 585)
aorta 0.17% (1 of 580)
bone 0.0%
brain 0.85% (5 of 589)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 588)
cerebral cortex 0.17% (1 of 589)
esophagus 1.68% (7 of 416)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.34% (2 of 590)
hypothalamus 0.34% (2 of 588)
kidney 4.58% (27 of 589)
large intestine 5.27% (31 of 588)
liver 0.0%
lower urinary tract 0.17% (1 of 592)
lung 0.34% (2 of 586)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 591)
oral epithelium 0.0%
ovary 0.17% (1 of 590)
oviduct 0.0%
pancreas 0.85% (5 of 589)
parathyroid gland 0.18% (1 of 568)
peripheral nervous system 0.34% (2 of 590)
peyers patch 0.0%
pituitary gland 0.17% (1 of 590)
prostate gland 2.21% (13 of 589)
skeletal muscle 0.0%
skin 0.17% (1 of 591)
small intestine 5.23% (31 of 593)
spinal cord 0.51% (3 of 592)
spleen 0.51% (3 of 587)
stomach 3.78% (22 of 582)
striatum 0.51% (3 of 587)
testis 1.01% (6 of 595)
thymus 0.17% (1 of 594)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 587)
uterus 0.34% (2 of 588)
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.

Echo

M-Mode Images

68 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

1 Images

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Human diseases caused by BC048562 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 BC048562 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia OMIM:610021
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Depression, Dysmetria OMIM:619191
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Stiff Person Spectrum Disorder
Emotional lability, Agoraphobia, Difficulty walking, Falls, Diabetes mellitus, Anxiety ORPHA:3198

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 BC048562

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 BC048562.

No publications found that use IMPC mice or data for BC048562.

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
BC048562tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
BC048562tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
BC048562tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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