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Gene: BC048562 MGI:3618861

Gene Summary

Name:

cDNA sequence BC048562

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal sensory capabilities/reflexes/nociception	BC048562^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.13×10^-05 *
decreased fasting circulating glucose level	BC048562^{tm1b(KOMP)Wtsi}	HOM	Late adult	1.12×10^-05
decreased locomotor activity	BC048562^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.75×10^-06
decreased locomotor activity	BC048562^{tm1b(KOMP)Wtsi}	HOM	Late adult	3.28×10^-06
increased freezing behavior	BC048562^{tm1b(KOMP)Wtsi}	HOM	Late adult	6.23×10^-05
abnormal locomotor behavior	BC048562^{tm1b(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	33.33% (1 of 3)
Testis	Wholemount images	heterozygote	66.67% (2 of 3)
Adrenal gland	N/A	heterozygote	0.0% (0 of 3)
Aorta	N/A	heterozygote	0.0% (0 of 3)
Bone	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	0.0% (0 of 3)
Brainstem	N/A	heterozygote	0.0% (0 of 3)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 3)
Cerebellum	N/A	heterozygote	0.0% (0 of 3)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 3)
Esophagus	N/A	heterozygote	0.0% (0 of 3)
Eye	N/A	heterozygote	0.0% (0 of 3)
Gall bladder	N/A	heterozygote	0.0% (0 of 3)
Heart	N/A	heterozygote	0.0% (0 of 3)
Hippocampus	N/A	heterozygote	0.0% (0 of 3)
Hypothalamus	N/A	heterozygote	0.0% (0 of 3)
Kidney	N/A	heterozygote	0.0% (0 of 3)
Large intestine	N/A	heterozygote	0.0% (0 of 3)
Liver	N/A	heterozygote	0.0% (0 of 3)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 3)
Lung	N/A	heterozygote	0.0% (0 of 3)
Lymph node	N/A	heterozygote	0.0% (0 of 3)
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 3)
Oral epithelium	N/A	heterozygote	0.0% (0 of 3)
Oviduct	N/A	heterozygote	0.0% (0 of 3)
Pancreas	N/A	heterozygote	0.0% (0 of 3)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 3)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 3)
Peyer's patch	N/A	heterozygote	0.0% (0 of 3)
Pituitary gland	N/A	heterozygote	0.0% (0 of 3)
Prostate gland	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 3)
Small intestine	N/A	heterozygote	0.0% (0 of 3)
Spinal cord	N/A	heterozygote	0.0% (0 of 3)
Spleen	N/A	heterozygote	0.0% (0 of 3)
Stomach	N/A	heterozygote	0.0% (0 of 3)
Striatum	N/A	heterozygote	0.0% (0 of 3)
Thymus	N/A	heterozygote	0.0% (0 of 3)
Thyroid gland	N/A	heterozygote	0.0% (0 of 3)
Trachea	N/A	heterozygote	0.0% (0 of 3)
Uterus	N/A	heterozygote	0.0% (0 of 3)
Vascular system	N/A	heterozygote	0.0% (0 of 3)
White adipose tissue	N/A	heterozygote	0.0% (0 of 3)

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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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.

Phenotype associated images not available

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.

Human diseases associated with BC048562 (0 diseases)
Human diseases predicted to be associated with BC048562 (9 diseases)

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	Matching phenotypes	Source
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking	ORPHA:100924
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284

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
BC048562^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
BC048562^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
BC048562^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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