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Gene: Mlec MGI:1924015

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Gene Summary

Name:
malectin
Synonyms:
ESTM19,  2410014A08Rik

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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 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 density Mlectm1a(EUCOMM)Wtsi HOM Early adult 6.39×10-06
increased bone mineral content Mlectm1a(EUCOMM)Wtsi HOM Early adult 8.77×10-05

Download data as:  TSV  XLS

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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 Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Mlectm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Mlectm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Mlectm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Mlectm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Mlectm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 72 images

Mlectm1a(EUCOMM)Wtsi
right eye, HOM, Female, WTSI
Mlectm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

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
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
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
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
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
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
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Melorheostosis
Increased bone mineral density, Joint stiffness, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
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
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... OMIM:620366
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
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull OMIM:609993
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, Weight l... 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
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
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
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
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure... OMIM:239000
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... ORPHA:763
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Decreased response to growth hormone stimulation test, Diaphyseal... ORPHA:94089
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Delayed puberty, Patholog... ORPHA:77259
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s... ORPHA:2905
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Werner Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Thyroid carcinoma, Hypogonadism, T... ORPHA:902
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Calvarial os... OMIM:617994
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79443
12Q14 Microdeletion Syndrome
Diabetes mellitus, Osteopoikilosis, Failure to thrive ORPHA:94063
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o... OMIM:127000
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79444
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
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... ORPHA:35687
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased circulating parathyroid hormone level, Congenital hypoparathyroidism, Decreased respons... OMIM:241410
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly of finger, Ca... ORPHA:90652
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Diabetes mellitus, Abnormal circulating l... ORPHA:79474
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Gaucher Disease Type 3
Increased bone mineral density, Delayed puberty, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Desmosterolosis
Joint contracture of the hand, Generalized osteosclerosis, Failure to thrive, Arthrogryposis mult... OMIM:602398
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis ORPHA:2323
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Hypogonad... ORPHA:904
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Failure to thrive, Recurrent fractures, Secondary hyperparathyroidism ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Failure to thrive, Increased density of long bones, 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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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
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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