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Gene: Atpaf2 MGI:2180561

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Gene Summary

Name:
ATP synthase mitochondrial F1 complex assembly factor 2
Synonyms:
ATP12,  ATP12p

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
preweaning lethality, complete penetrance Atpaf2tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal maxilla morphology Atpaf2tm1a(KOMP)Wtsi HET Early adult 1.47×10-05
abnormal vertebrae morphology Atpaf2tm1a(KOMP)Wtsi HET Early adult 6.12×10-05
decreased locomotor activity Atpaf2tm1a(KOMP)Wtsi HET Early adult 8.52×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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 50% (1 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 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 100% (2 of 2)
Uterus 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%
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.

Legacy Phenotype Associated Images
Atpaf2tm1a(KOMP)Wtsi
forearm, WT, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
head, WT, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
head, WT, Female, WTSI

View all 191 images

Atpaf2tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Atpaf2tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Atpaf2 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.

The table below shows human diseases associated to Atpaf2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Atp Synthase Deficiency
Lethargy, Ataxia ORPHA:254913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Micrognathia, Retrognathia OMIM:604273

The table below shows human diseases predicted to be associated to Atpaf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Herniation of intervertebral nuc... OMIM:601216
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae, Hypoplasia of the m... OMIM:156510
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia, Patchy distortion of vertebrae, Vertebral cleft... ORPHA:1248
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Micrognathia, Malar flattening, Short neck, Horizon... OMIM:108721
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis, Kyphosis OMIM:300676
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology ORPHA:90653
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Spastic Paraplegia 16, X-Linked
Shuffling gait, Hypoplasia of the maxilla OMIM:300266
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Malar flattening, Abnormal form of the ver... ORPHA:93262
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instab... ORPHA:79345
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Scoliosis, Mandibular pr... OMIM:614753
Geroderma Osteodysplasticum
Platyspondyly, Hypoplasia of the maxilla, Malar flattening, Biconcave vertebral bodies, Kyphoscol... OMIM:231070
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Hypoplasia of the maxilla, Micrognathia OMIM:166300
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia, Scoliosis ORPHA:776
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... ORPHA:199306
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename... ORPHA:1798
Pycnodysostosis
Spondylolysis, Carious teeth, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of... ORPHA:763
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Delayed eruption of teeth, Abnormality of the cervical spine, Short ne... ORPHA:915
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Inability to walk, Hypoplasia of the maxilla, Scoliosis OMIM:218000
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Mandibular prognathia OMIM:620157
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:261295
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Abnormality of the vertebral column OMIM:109120
Angelman Syndrome
Hypoplasia of the maxilla, Broad-based gait, Progressive gait ataxia, Ataxia, Scoliosis, Mandibul... OMIM:105830
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Trismus, Delayed eruption of primary teeth OMIM:616367
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Abnormal dental enamel morphology, Micrognathia, Malar flattening, Cau... ORPHA:439822
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Lumbar hyperlordos... OMIM:216550
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology ORPHA:207
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Difficulty walking, Inability to walk, Ataxia, Thoracic kyphoscoliosis ORPHA:481152
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Acrodysostosis
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Spin... ORPHA:950
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses OMIM:136760
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Dela... ORPHA:192
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Delayed eruption of perman... OMIM:170390
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption... ORPHA:50814
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Carpenter Syndrome 1
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flattening, Short ne... OMIM:201000
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening ORPHA:79113
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Delayed eruption of teeth,... OMIM:101800
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Micrognathia, Retrognathia, Kyphoscoliosis OMIM:608149
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Scoliosis, Kyphosis OMIM:615108
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Cervical spine hypermobility, Hypoplasia of the odontoid process, Shor... OMIM:305400
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Crouzon Syndrome
Abnormality of the cervical spine, Hypoplasia of the maxilla, Mandibular prognathia OMIM:123500
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Lowry-Maclean Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Delayed eruption of primary teeth, Talon cusp ORPHA:2409
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia, Scoliosis, Kyphosis OMIM:615109
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia, Kyphoscoliosis, Gait disturba... OMIM:259600
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Short neck ORPHA:178303
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Frontorhiny
Hypoplasia of the maxilla, Lumbar hyperlordosis, Scoliosis, Hypoplastic frontal sinuses ORPHA:391474
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Tip-toe gait ORPHA:293939
Nager Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:245
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Shuffling gait, Hypoplasia of the maxilla, Micrognathia, Mandibular prognathia OMIM:300534
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening, Scoliosis, Sacral... OMIM:601390
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Micrognathia, Agenesis of central incisor, Malar flattening, Scoliosis OMIM:252100
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Apert Syndrome
Hypoplasia of the maxilla, Delayed eruption of teeth, Cervical C5/C6 vertebrae fusion, Vertebral ... ORPHA:87
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Recurrent sinusitis, Short neck, Beaking of vertebral bo... OMIM:213980
Andersen-Tawil Syndrome
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Abnormality of dental colo... ORPHA:37553
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Prominence ... OMIM:265050
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla OMIM:614261
Martsolf Syndrome 1
Hypoplasia of the maxilla, Lumbar hyperlordosis, Micrognathia, Thoracic scoliosis OMIM:212720
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Micrognathia, Caudal appendage, Ataxia ORPHA:314679
Cowden Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Scoliosis, Kyphosis OMIM:158350
Marshall Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, Hypo... ORPHA:560
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening, Scoliosis, Sacral... OMIM:615546
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Mandibular prognathia OMIM:601499
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Microretrognathia, Retrognathia, Ky... OMIM:602535
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Scoliosis, Kyphosis ORPHA:193
Saethre-Chotzen Syndrome
Hyperlordosis, Hypoplasia of the maxilla, Scoliosis, Abnormal form of the vertebral bodies ORPHA:794
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Scoliosis ORPHA:251061
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Greenberg Dysplasia
Platyspondyly, Hypoplasia of the maxilla, Retrognathia, Supernumerary vertebral ossification cent... OMIM:215140
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Retrognathia, Micrognathia, Sco... ORPHA:2462
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Micrognathia, Talon cusp ORPHA:363417
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Lumbar hyperlordosis, Scoliosis, Spinal canal stenosis OMIM:277600
Recon Progeroid Syndrome
Delayed eruption of permanent teeth, Prominence of the premaxilla OMIM:620370
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla ORPHA:782
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Scoliosis OMIM:601812
Pfeiffer Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:101600
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Scoliosis, C1-C2 vertebral abnormality OMIM:182212
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Osteoglophonic Dysplasia
Platyspondyly, Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Malar flat... OMIM:166250
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis ORPHA:1101
Branchioskeletogenital Syndrome
Hypoplasia of the maxilla, Carious teeth, Abnormality of the vertebral spinous processes, Abnorma... ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia OMIM:309520
Myhre Syndrome
Platyspondyly, Hypoplasia of the maxilla, Enlarged vertebral pedicles, Malar flattening, Short ne... OMIM:139210
Rapp-Hodgkin Syndrome
Taurodontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia OMIM:129400
Elsahy-Waters Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Impacted tooth, Malar ... OMIM:211380
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Prominence of the premaxilla, Hemivertebrae, Scoliosis OMIM:304050
Treacher-Collins Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormality of the vertebral column,... ORPHA:861
Aicardi Syndrome
Block vertebrae, Scoliosis, Butterfly vertebrae, Prominence of the premaxilla ORPHA:50
Stickler Syndrome
Platyspondyly, Hypoplasia of the maxilla, Microretrognathia, Abnormal form of the vertebral bodie... ORPHA:828
Myhre Syndrome
Platyspondyly, Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:2588
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:613805
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Lumbar hyperlordosi... OMIM:300106
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Short neck, Retrognathia OMIM:608156
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Short neck OMIM:609460
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Lumbar hyperlordosis, Scoliosis, Spinal canal stenosis OMIM:608328
Dyskeratosis Congenita
Taurodontia, Hypoplasia of the maxilla, Carious teeth, Scoliosis ORPHA:1775
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Micrognathia, Microretrognathia OMIM:613803
Barber-Say Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Mandibul... OMIM:209885
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Sacral dimple OMIM:600920
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Micrognathia, Abnormal form of the verte... ORPHA:1106
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Hemivertebrae OMIM:224690
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Rubinstein-Taybi Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Retrognathia, Micrognathia, Enamel hypoplasia, Ta... OMIM:180849
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Micrognathia, Retrognathia, Mandibular aplasia ORPHA:2554
Zttk Syndrome
Hypoplasia of the maxilla, Scoliosis, Kyphosis, Hemivertebrae OMIM:617140
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Short neck, Micrognathia OMIM:263650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplasia of the maxilla, Mandibular prognathia, Retrognathia, Micrognathia, Kyphoscoliosis, Sho... ORPHA:96334
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, S... OMIM:610829
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Cutis Laxa, Autosomal Recessive, Type Iic
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening, Kyphoscoliosis OMIM:617402
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Malar flattening, Hypoplastic sacrum OMIM:604292
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Hypoplasia of the maxilla OMIM:305100
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Broad-based gait, Persistence of primary teeth, Kyphosc... ORPHA:2044
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the frontal sinuses ORPHA:306542
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Scolios... OMIM:182250
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Ib
Micrognathia, Retrognathia, Prominence of the premaxilla OMIM:614437
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Supernumerary tooth, M... OMIM:614188
Primrose Syndrome
Hypoplasia of the maxilla, Kyphosis, Increased size of the mandible, Malar flattening, Ataxia, Po... OMIM:259050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Malar flattening OMIM:129900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Lumbar hyperlordosis, Hemivertebrae, Kyphoscoliosis ORPHA:500150
Peters-Plus Syndrome
Hypoplasia of the maxilla, Micrognathia, Short neck, Agenesis of maxillary lateral incisor, Conic... OMIM:261540
Craniofacial Microsomia 1
Block vertebrae, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Hemivertebrae, Maxill... OMIM:164210
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Aplastic zygomatic arch, Scoliosis OMIM:616462
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Malar flattening OMIM:101400
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Holoprosencephaly 2
Aplasia of the premaxilla, Scoliosis, Malar flattening OMIM:157170
Isolated Atp Synthase Deficiency
Lethargy, Ataxia ORPHA:254913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Micrognathia, Retrognathia OMIM:604273

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 Atpaf2

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 Atpaf2.

There are 2 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) Atpaf2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Atpaf2tm1a(KOMP)Wtsi PMC6459510

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Atpaf2tm300104(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atpaf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atpaf2tm37876(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atpaf2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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