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 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 Skull Lateral Orientation

14 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 Skull Dorso Ventral Orientation

16 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
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Diabetes mellitus, Increased bone mineral density OMIM:602475
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis 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
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteopenia, Delayed puberty, Osteoporosis OMIM:615270
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating ... OMIM:122860
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
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
Osteoporosis, Joint hypermobility, Decreased body weight, Increased bone mineral density OMIM:614856
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Pseudohypoparathyroidism, Diaphyseal sclerosis, Incre... ORPHA:94089
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Failure to ... OMIM:259700
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Increased bone mineral density, Increased susceptibi... ORPHA:77297
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull OMIM:609993
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis, Failure to thrive ORPHA:2785
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Delaye... OMIM:131300
Poems Syndrome
Sclerosis of hand bone, Primary adrenal insufficiency, Hypothyroidism, Weight loss, Sclerosis of ... ORPHA:2905
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Metacarpal periosteal thickening, Elevated circulating parathyroid hormo... OMIM:617994
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Delayed puberty, Pathologic fracture, Osteopenia, Ost... ORPHA:77259
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Pseudohypoparathyroidism Type 1A
Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Increased bone mineral density, Obesity... ORPHA:79443
Werner Syndrome
Slender build, Osteoporosis, Increased bone mineral density, Thyroid carcinoma, Joint stiffness, ... ORPHA:902
Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Increased bone mineral density, Obesity... ORPHA:79444
12Q14 Microdeletion Syndrome
Diabetes mellitus, Failure to thrive, Osteopoikilosis ORPHA:94063
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Small for gestational age, Thickened cortex of long bones, Increased bone min... OMIM:127000
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Carpal synostosis, Increa... ORPHA:90652
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Lenz-Majewski Hyperostotic Dwarfism
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... ORPHA:2658
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Congenital hypoparathyroidism, Decreased response to growth hormone stimua... OMIM:241410
Erdheim-Chester Disease
Osteolysis, Weight loss, Increased bone mineral density, Hypogonadotropic hypogonadism, Diabetes ... ORPHA:35687
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Generalized osteosclerosis, Enthesitis, Reduced bone mineral density, ... ORPHA:89936
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Decreased body weig... ORPHA:800
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Hyperinsulinemia, Abnormality of circulating leptin level, ... ORPHA:79474
Gaucher Disease Type 3
Delayed puberty, Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Sanjad-Sakati Syndrome
Congenital hypoparathyroidism, Hypoparathyroidism, Patchy osteosclerosis ORPHA:2323
Desmosterolosis
Joint contracture of the hand, Arthrogryposis multiplex congenita, Generalized osteosclerosis, Fa... OMIM:602398
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Williams Syndrome
Osteoporosis, Radioulnar synostosis, Joint laxity, Synostosis of joints, Hypothyroidism, Joint hy... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Craniosynostosis, Recurrent fractures, Osteopetrosis ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Thickened cortex of long bones, Sclerosis of skull base, Failure... 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

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