Gene Summary

Name:
BLOC-1 related complex subunit 6
Synonyms:
2310047M10Rik

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
embryonic lethality prior to organogenesis Borcs6tm1.1(KOMP)Vlcg HOM   E9.5 0.00
increased total body fat amount Borcs6tm1.1(KOMP)Vlcg HET Early adult 2.30×10-06
increased circulating calcium level Borcs6tm1.1(KOMP)Vlcg HET Early adult 1.17×10-05
preweaning lethality, complete penetrance Borcs6tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Borcs6 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 Borcs6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypocalciuric Hypercalcemia, Familial, Type Ii
Chondrocalcinosis, Multiple lipomas, Hypermagnesemia, Hypercalcemia OMIM:145981
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Generalized lipodystrophy, Hypertriglyceridemia, Reduced subcutaneous adipose tiss... OMIM:612526
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas, Hypercalcemia OMIM:600740
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Oculoskeletodental Syndrome
Enamel hypoplasia, Hypocalcemia, Hypercalcemia ORPHA:557003
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypophosphatasia
Hypercalcemia ORPHA:436
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia ORPHA:2591
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Chondrocalcinosis, Hypocalcemic seizures, Hypermagnesemia, Lipoma, Hyperc... ORPHA:405
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hypophosphatemia, Hip contracture, Hypercalcemia OMIM:156400
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Oculoskeletodental Syndrome
Elbow flexion contracture, Hypocalcemia, Hypercalcemia OMIM:618440
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Abnormal dental enamel morphology ORPHA:251004
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:199299
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Enamel hypoplasia OMIM:612462
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemi... OMIM:601678
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:95409
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypercalcemia OMIM:131100
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Mastocytosis
Hypercalcemia ORPHA:98292
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:99880
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Parathyroid Carcinoma
Lipoma, Chondrocalcinosis, Hypophosphatemia, Hypercalcemia ORPHA:143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Zollinger-Ellison Syndrome
Lipoma, Multiple lipomas, Hypercalcemia ORPHA:913
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Vipoma
Subcutaneous lipoma, Hypokalemia, Hypercalcemia ORPHA:97282
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Ppoma
Subcutaneous lipoma, Hypercalcemia ORPHA:97278
Addison Disease
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:85138
X-Linked Agammaglobulinemia
Hypocalcemia, Cellulitis ORPHA:47
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, C... ORPHA:94089
Somatostatinoma
Subcutaneous lipoma, Hypercalcemia ORPHA:97283
Hypophosphatemic Rickets
Odontodysplasia, Enthesitis, Hypophosphatemia, Hypercalcemia ORPHA:437
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Grfoma
Subcutaneous lipoma, Hypercalcemia ORPHA:97261
Glucagonoma
Subcutaneous lipoma, Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Hypercalcemia ORPHA:653
Timothy Syndrome
Hypocalcemia OMIM:601005
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Abnormal dental enamel morphology ORPHA:2323
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Neuroleptic Malignant Syndrome
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... ORPHA:94093
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Inguinal hernia, Hypocalcemia OMIM:235255
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Cellulitis, Hypocalcemia, Hypoalbuminemia, Fa... ORPHA:36234
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, C... ORPHA:79444
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Hypercalcemia ORPHA:652
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Inguinal hernia, Hypocalcemia ORPHA:1655
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Williams Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Umbilical hernia, Elevated circulating... ORPHA:904
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Hypocalcemia, Hypokalemia, Calcinosis OMIM:617913
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Hypocalcemia OMIM:212750
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hyperphosphatemia, Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, C... ORPHA:79443
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Hypoa... ORPHA:37042
Sarcoidosis
Hypercalcemia, Scarring ORPHA:797
Williams-Beuren Syndrome
Flexion contracture, Umbilical hernia, Inguinal hernia, Hypercalcemia OMIM:194050
Velocardiofacial Syndrome
Umbilical hernia, Inguinal hernia, Hypocalcemia OMIM:192430
Isotretinoin-Like Syndrome
Inguinal hernia, Hypocalcemia ORPHA:2306
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Sotos Syndrome
Inguinal hernia, Umbilical hernia, Bilateral camptodactyly, Hip contracture, Ankle flexion contra... ORPHA:821
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Gitelman Syndrome
Chondrocalcinosis, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Pearson Syndrome
Hypophosphatemia, Hyperalaninemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:699
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Inguinal hernia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Inguinal hernia, Hypocalcemia OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Hennekam Syndrome
Camptodactyly of finger, Hypocalcemia ORPHA:2136
22Q11.2 Deletion Syndrome
Umbilical hernia, Inguinal hernia, Hypocalcemia, Abnormal dental enamel morphology ORPHA:567
Liver Disease, Severe Congenital
Hypoproteinemia, Inguinal hernia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentr... OMIM:619991
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Inguinal hernia, Knee flexion contracture, Enamel hypoplasia, Reduced subcutaneous adipose tissue... OMIM:619503
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets ORPHA:289176
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Digeorge Syndrome
Umbilical hernia, Femoral hernia, Inguinal hernia, Hypocalcemia OMIM:188400
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Charge Syndrome
Umbilical hernia, Hypocalcemia, Omphalocele OMIM:214800
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Conjugated hyperbilirubinemia OMIM:243800

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 Borcs6

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 Borcs6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Borcs6 is required for endo-lysosomal degradation during early development. Molecular reproduction and development (June 2022) Borcs6tm1.1(KOMP)Vlcg 35726782
A Stat6/Pten Axis Links Regulatory T Cells with Adipose Tissue Function. Cell metabolism (September 2017) Borcs6tm1.1(KOMP)Vlcg PMC5627977

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Borcs6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Borcs6tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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