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Gene: Tmem42 MGI:1277176

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Gene Summary

Name:
transmembrane protein 42
Synonyms:
4933429E06Rik,  D9Ertd662e,  0610027O18Rik

Order Alleles

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 lean body mass Tmem42tm1b(KOMP)Wtsi HOM Early adult 1.42×10-05
increased bone mineral content Tmem42tm1b(KOMP)Wtsi HOM Early adult 5.94×10-06
decreased circulating HDL cholesterol level Tmem42tm1b(KOMP)Wtsi HOM Early adult 3.89×10-05
increased bone mineral density Tmem42tm1b(KOMP)Wtsi HOM Early adult 3.68×10-06

Download data as:  TSV  XLS

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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 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 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 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 100% (2 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary 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 100% (2 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 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 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)
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 0.0%
aorta 0.0%
blood vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Forepaw

12 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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DSS Histology

Images

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Tmem42tm1b(KOMP)Wtsi
HOM, Male, WTSI
Tmem42tm1b(KOMP)Wtsi
HOM, Male, WTSI
Tmem42tm1b(KOMP)Wtsi
HOM, Male, WTSI
Tmem42tm1b(KOMP)Wtsi
HOM, Male, WTSI
Tmem42tm1b(KOMP)Wtsi
HOM, Male, WTSI

View all 60 images

Tmem42tm1b(KOMP)Wtsi
corneal vascularization, HOM, Female, WTSI

Human diseases caused by Tmem42 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 Tmem42 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat... OMIM:259700
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... OMIM:266510
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... OMIM:239000
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... OMIM:127000
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Werner Syndrome
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness ORPHA:902
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... OMIM:259720
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar... OMIM:602398
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... ORPHA:79444
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... ORPHA:79443
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone, Weight loss ORPHA:2905
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca... ORPHA:90652
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Xanthelasma ORPHA:35687
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Osteopetrosis ORPHA:3240
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... OMIM:259775
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat... ORPHA:355
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Flexion contracture, Hypoalbuminemia, Steatorrhea, Failure to thrive, Hypocholesterol... OMIM:212065
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol... ORPHA:14
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... ORPHA:79474
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Abnormal bone ossification, Failure to thrive, Hypocholesterolemia... ORPHA:79324
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Hyperoxaluria, Recurrent fractures ORPHA:416
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... ORPHA:667
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... ORPHA:904
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Elevated circulating creatine kinase concentration, Osteopetrosis, Hypocalce... ORPHA:2785
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... OMIM:269150
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... OMIM:270400
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370

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 Tmem42

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 Tmem42.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tmem42tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tmem42tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tmem42tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tmem42tm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tmem42tm1b(KOMP)Wtsi PMC5827107

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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
Tmem42tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tmem42tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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