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Gene: Fundc1 MGI:1919268

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Gene Summary

Name:
FUN14 domain containing 1
Synonyms:
1500005J14Rik,  1810033P05Rik

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
decreased heart weight Fundc1tm1c(KOMP)Wtsi HEM Early adult 4.25×10-05
increased bone mineral density Fundc1tm1a(KOMP)Wtsi HEM Early adult 5.29×10-05
decreased bone mineral density Fundc1tm1c(KOMP)Wtsi HEM Early adult 1.72×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 hemizygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A hemizygote Not available
Aorta N/A heterozygote Not available
Blood vessel N/A hemizygote 0.0% (0 of 1)
Blood vessel N/A heterozygote 0.0% (0 of 1)
Bone N/A hemizygote 100% (1 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A hemizygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brainstem N/A hemizygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A hemizygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote 100% (1 of 1)
Cartilage tissue N/A heterozygote 100% (1 of 1)
Cerebellum N/A hemizygote Not available
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A hemizygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A hemizygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A hemizygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Heart N/A hemizygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A hemizygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A hemizygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A hemizygote 100% (1 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A hemizygote 100% (1 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote 100% (1 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A hemizygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A hemizygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A hemizygote 0.0% (0 of 1)
Mammary gland N/A heterozygote 0.0% (0 of 1)
Esophagus N/A hemizygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote Not available
Olfactory lobe N/A heterozygote Not available
Ovary N/A hemizygote Not available
Ovary N/A heterozygote 0.0% (0 of 1)
Oviduct N/A hemizygote Not available
Oviduct N/A heterozygote 100% (1 of 1)
Pancreas N/A hemizygote 0.0% (0 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote Not available
Parathyroid gland N/A heterozygote 100% (1 of 1)
Peripheral nervous system N/A hemizygote 100% (1 of 1)
Peripheral nervous system N/A heterozygote 100% (1 of 1)
Peyer's patch N/A hemizygote 100% (1 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A hemizygote 100% (1 of 1)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A hemizygote 100% (1 of 1)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A hemizygote 100% (1 of 1)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 1)
Skin N/A hemizygote 100% (1 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A hemizygote 100% (1 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A hemizygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Spleen N/A hemizygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A hemizygote 100% (1 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Striatum N/A hemizygote Not available
Striatum N/A heterozygote Not available
Testis N/A hemizygote Not available
Testis N/A heterozygote Not available
Thymus N/A hemizygote Ambiguous
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A hemizygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Trachea N/A hemizygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Uterus N/A hemizygote Not available
Uterus N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A hemizygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)
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 Dorso Ventral

8 Images

View images
Histopathology

Images

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

View images
X-ray

XRay Images Skull Lateral Orientation

8 Images

View images
Legacy Phenotype Associated Images
Fundc1tm1a(KOMP)Wtsi
head, HEMI, Male, WTSI
Fundc1tm1a(KOMP)Wtsi
head, HEMI, Male, WTSI
Fundc1tm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Fundc1tm1a(KOMP)Wtsi
forearm, WT, Male, WTSI
Fundc1tm1a(KOMP)Wtsi
head, HEMI, Male, WTSI

View all 199 images

Fundc1tm1c(KOMP)Wtsi
posterior iris synechia, HOM, Female, WTSI
Fundc1tm1c(KOMP)Wtsi
corneal opacity, HOM, Female, WTSI
Fundc1tm1c(KOMP)Wtsi
corneal opacity, HOM, Female, WTSI
Fundc1tm1c(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Fundc1tm1c(KOMP)Wtsi
left eye, HOM, Female, WTSI
Fundc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Fundc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Fundc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Fundc1tm1c(KOMP)Wtsi
back skin, HOM, Female, WTSI
Fundc1tm1c(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Fundc1 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 Fundc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
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
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteoporosis
Osteoporosis OMIM:166710
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran... OMIM:259700
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... ORPHA:1782
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... OMIM:614856
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... ORPHA:53
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density OMIM:616943
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis ORPHA:94089
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Majeed Syndrome
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... ORPHA:77297
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures OMIM:239000
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... OMIM:131300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count OMIM:259720
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... ORPHA:89936
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... ORPHA:90652
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone ORPHA:2905
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion contracture, Osteop... ORPHA:800
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Gaucher Disease
Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Osteoarthritis, Incr... ORPHA:355
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Ectopic ossification, Reduced bone mineral density, Hyperostosis ... ORPHA:79443
Desmosterolosis
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita OMIM:602398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Williams Syndrome
Synostosis of joints, Osteopenia, Joint stiffness, Joint hypermobility, Radioulnar synostosis, Os... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Recurrent fractures ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones OMIM:269150
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785

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 Fundc1

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 Fundc1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
FUNDC1-mediated mitophagy and HIF1α activation drives pulmonary hypertension during hypoxia. Cell death & disease (July 2022) Fundc1tm1a(KOMP)Wtsi PMC9304375
Receptor-mediated mitophagy regulates EPO production and protects against renal anemia. eLife (May 2021) Fundc1tm1a(KOMP)Wtsi PMC8121547
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Fundc1tm1a(KOMP)Wtsi Fundc1tm1c(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Fundc1tm1a(KOMP)Wtsi Fundc1tm1a(KOMP)Wtsi Fundc1tm1c(KOMP)Wtsi Fundc1tm1c(KOMP)Wtsi PMC6459510
Deficiency of mitophagy receptor FUNDC1 impairs mitochondrial quality and aggravates dietary-induced obesity and metabolic syndrome. Autophagy (April 2019) Fundc1tm1a(KOMP)Wtsi PMC6844496
Hyperglycemia-Driven Inhibition of AMP-Activated Protein Kinase α2 Induces Diabetic Cardiomyopathy by Promoting Mitochondria-Associated Endoplasmic Reticulum Membranes In Vivo. Circulation (April 2019) Fundc1tm1c(KOMP)Wtsi PMC6465113
FUN14 Domain-Containing 1-Mediated Mitophagy Suppresses Hepatocarcinogenesis by Inhibition of Inflammasome Activation in Mice. Hepatology (Baltimore, Md.) (January 2019) Fundc1tm1a(KOMP)Wtsi 30053328
Mitophagy Directs Muscle-Adipose Crosstalk to Alleviate Dietary Obesity. Cell reports (May 2018) Fundc1tm1a(KOMP)Wtsi 29719250
Binding of FUN14 Domain Containing 1 With Inositol 1,4,5-Trisphosphate Receptor in Mitochondria-Associated Endoplasmic Reticulum Membranes Maintains Mitochondrial Dynamics and Function in Hearts in Vivo. Circulation (September 2017) Fundc1tm1c(KOMP)Wtsi PMC5716911
Hypoxic mitophagy regulates mitochondrial quality and platelet activation and determines severity of I/R heart injury. eLife (December 2016) Fundc1tm1a(KOMP)Wtsi PMC5214169

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MGI Allele Allele Type Produced
Fundc1tm41066(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fundc1tm358072(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fundc1tm41066(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fundc1tm1c(KOMP)Wtsi Wild type floxed exon (post-Flp) Mice
Fundc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fundc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice

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