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Gene: Borcs5 MGI:1915024

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Gene Summary

Name:
BLOC-1 related complex subunit 5
Synonyms:
5830457J20Rik,  Loh12cr1

Order Alleles

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
preweaning lethality, complete penetrance Borcs5em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Borcs5em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Borcs5 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 Borcs5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Pyknoachondrogenesis
Stillbirth OMIM:265880
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra... ORPHA:70588
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... ORPHA:2302
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Bilateral facial palsy, Pulmonary fibrosis ORPHA:254361
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... ORPHA:2902
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Neonatal death OMIM:300219
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Recurrent bronchitis OMIM:244400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:620233
Farber Disease
Diffuse reticular or finely nodular infiltrations, Atelectasis, Recurrent upper respiratory tract... ORPHA:333
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary infiltrates... ORPHA:538
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp... OMIM:613177
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia OMIM:269860
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Ab... OMIM:615067
Zygomycosis
Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, ... ORPHA:73263
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Peripapillary atrophy, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood OMIM:618278
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Facial palsy ORPHA:258
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram OMIM:306400
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Atelectasis, Cryptorchidism, Azoospermia ORPHA:534
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Atelectasis, Cryptorchidism, Optic atrophy, Abnormal lung lobation ORPHA:567
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Chand Syndrome
Atelectasis ORPHA:1401
Relapsing Polychondritis
Atelectasis ORPHA:728
Digeorge Syndrome
Hydrocele testis, Atelectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:188400

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 Borcs5

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 Borcs5.

No publications found that use IMPC mice or data for Borcs5.

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
Borcs5tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Borcs5em1(IMPC)Bay Exon Deletion Mice
Borcs5tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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