Gene Summary

Name:
malectin
Synonyms:
ESTM19,  2410014A08Rik

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
increased lean body mass Mlectm1a(EUCOMM)Wtsi HOM Early adult 3.41×10-05
increased circulating thyroxine level Mlectm1a(EUCOMM)Wtsi HOM Early adult 5.30×10-05
increased bone mineral content Mlectm1a(EUCOMM)Wtsi HOM Early adult 8.77×10-05
increased bone mineral density Mlectm1a(EUCOMM)Wtsi HOM Early adult 6.39×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Mlec 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 Mlec by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
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
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Increased bone mineral density OMIM:618406
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Isolated Osteopoikilosis
Joint stiffness, Abnormality of the endocrine system, Abnormal bone ossification, Sclerosis of fo... ORPHA:166119
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Craniof... OMIM:122860
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth hormone stimul... ORPHA:94089
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis... OMIM:259700
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... ORPHA:1782
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Failure to thrive, Increased bone mineral density, Osteopenia, Osteoporosis,... OMIM:239000
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Pycnodysostosis
Decreased response to growth hormone stimulation test, Increased bone mineral density, Coronal cr... ORPHA:763
Poems Syndrome
Abnormality of the endocrine system, Sclerosis of skull base, Sclerosis of foot bone, Increased c... ORPHA:2905
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis, Dela... ORPHA:77259
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Cal... OMIM:617994
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Increased bone mineral density ORPHA:36913
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Werner Syndrome
Slender build, Joint stiffness, Type II diabetes mellitus, Thyroid carcinoma, Increased bone mine... ORPHA:902
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis, Diabetes mellitus ORPHA:94063
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density, Small for ges... OMIM:127000
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Hypogonadotropic hypogonadism, Osteolysis, Weight ... ORPHA:35687
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Otopalatodigital Syndrome Type 2
Carpal synostosis, Failure to thrive, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Limitation of joint mobility, Inc... ORPHA:79474
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Hypogonad... ORPHA:2658
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Patchy osteosclerosis, Decreased response to growth hormone stimul... OMIM:241410
X-Linked Hypophosphatemia
Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... ORPHA:89936
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Decreased body weight, Increased bone mineral density, Abnormal... ORPHA:800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density, Delayed puberty ORPHA:77261
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Osteopenia, ... ORPHA:355
Trichothiodystrophy
Multiple joint contractures, Osteopenia, Increased bone mineral density, Craniosynostosis ORPHA:33364
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Sanjad-Sakati Syndrome
Hypoparathyroidism, Patchy osteosclerosis, Congenital hypoparathyroidism ORPHA:2323
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Williams Syndrome
Joint stiffness, Precocious puberty, Type II diabetes mellitus, Increased bone mineral density, H... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Secondary hyperparathyroidism, Recurrent fractures, Failure to thrive, Osteopetrosis ORPHA:2785
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Reduced bone mineral density, Craniosynostosis ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sclerosis of skull base, Failure to thrive, Thickened cortex of ... OMIM:269150

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 Mlec

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 Mlec.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mlectm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mlectm1a(EUCOMM)Wtsi PMC6459510
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Mlectm1a(EUCOMM)Wtsi PMC3745610

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MGI Allele Allele Type Produced
Mlectm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mlectm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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