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Gene: Atf7 MGI:2443472

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Gene Summary

Name:
activating transcription factor 7
Synonyms:
9430065F09Rik,  1110012F10Rik,  C130020M04Rik

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
persistence of hyaloid vascular system Atf7tm2b(EUCOMM)Hmgu HOM Early adult 3.38×10-05
increased bone mineral density Atf7tm2b(EUCOMM)Hmgu HOM Early adult 1.27×10-06
increased startle reflex Atf7tm2b(EUCOMM)Hmgu HOM Early adult 2.90×10-18
decreased prepulse inhibition Atf7tm2b(EUCOMM)Hmgu HOM Early adult 6.61×10-15

Download data as:  TSV  XLS

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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 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)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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 0.0% (0 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 0.0% (0 of 2)
Skeletal muscle 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 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system 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%
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%
esophagus 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%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 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.

Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Atf7 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 Atf7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
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
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Optic atrophy, Craniosynostosis ORPHA:178377
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt... ORPHA:3152
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
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
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture OMIM:620366
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Recurrent fractures, Optic atrophy, Osteopetrosis OMIM:611490
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
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
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Increased bone mineral density, Osteopetrosis OMIM:617306
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Optic atrophy, Osteopetrosis, Pa... OMIM:259700
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Co... ORPHA:1782
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
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
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Delayed patellar ossification, Increased bone mineral density, Abnormal bone ... ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Optic atrophy... OMIM:259710
Spondyloepiphyseal Dysplasia Tarda
Retinal detachment, Increased bone mineral density, Osteoarthritis of the distal interphalangeal ... ORPHA:93284
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... OMIM:239000
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis OMIM:615085
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy ORPHA:320406
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Autoimmune Hypoparathyroidism
Increased bone mineral density, Laryngeal dystonia ORPHA:36913
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Osteopetrosis, Dystonia ORPHA:3240
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... OMIM:224300
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... ORPHA:77297
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Laryngeal dystonia, D... ORPHA:94089
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... OMIM:618476
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Cranial hyperostosis, Optic atrophy, Decreased... OMIM:259720
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression OMIM:259730
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Macula... ORPHA:33364
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Optic atrophy, Exaggerated startle response OMIM:616881
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
12Q14 Microdeletion Syndrome
Tremor, Osteopoikilosis ORPHA:94063
Poems Syndrome
Sclerosis of hand bone, Papilledema, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Optic atrophy, Optic neuropathy OMIM:259900
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Choreoathetosis, Hyperostosis front... ORPHA:79443
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Optic nerve hypoplasia, Exaggerated startle response OMIM:617864
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Laryngeal dystonia ORPHA:79444
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Depression, Dysphagia, Mania, Laryngeal dystonia ORPHA:845
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Limi... ORPHA:79474
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Flexion contracture, Optic atrophy, Retinal dys... OMIM:253800
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis OMIM:612301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Primary Hyperoxaluria
Generalized osteosclerosis, Optic disc pallor, Optic atrophy, Recurrent fractures ORPHA:416
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility ORPHA:2714
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral density, Osteopetrosis, Optic... ORPHA:667
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Optic atrophy, Contracture... ORPHA:521426
Sclerosteosis 1
Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C... OMIM:269500
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Optic atrophy OMIM:617527
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Tremor, Osteoporosis, ... ORPHA:904
Sandhoff Disease
Exaggerated startle response OMIM:268800
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Retinal atrophy, Optic atrophy, Recurrent fractures ORPHA:2785
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones, Opistho... OMIM:269150
Pierson Syndrome
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Radioulnar syno... OMIM:300166
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Optic disc pallor, Exaggerated startle response, Joint laxity, Osteoporosis, Dystonia ORPHA:438213
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Remnants of the hyaloid vascular system, ... OMIM:619539
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy ORPHA:649

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 Atf7

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 Atf7.

No publications found that use IMPC mice or data for Atf7.

Order Mouse and ES Cells

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
Atf7tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atf7tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atf7tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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