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

Download data as:  TSV  XLS

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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 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
Retrognathia, Micrognathia 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, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc... OMIM:601216
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Multiple small vertebral fractures, Osteoporosis of vertebrae, Platysp... OMIM:156510
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Vertebral clefting, Scoliosis, Patchy distortio... ORPHA:1248
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Atelosteogenesis, Type Iii
Cervical segmentation defect, Cervical kyphosis, Short neck, Hypoplasia of the maxilla, Micrognat... OMIM:108721
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Scoliosis OMIM:300676
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Platyspondyly ORPHA:90653
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Shuffling gait OMIM:300266
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Abnormal sacrum morphology, Abnormal form of the ver... ORPHA:93262
Geroderma Osteodysplasticum
Mandibular prognathia, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplasia of the maxilla, Ir... OMIM:231070
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Atlantoaxial instability, Punctate vertebral calcif... ORPHA:79345
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Inability to walk, Micrognathia OMIM:166300
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Scoliosis, Advanced eruption of teeth, Retr... OMIM:614753
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Scoliosis, Micrognathia ORPHA:776
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short neck, Hypoplasia of the maxilla, Abnormal vertebral segmentation... ORPHA:915
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia OMIM:620157
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Short neck, Hypoplasia of the maxilla, Carious teeth, Hyperlor... ORPHA:1798
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Inability to walk, Scoliosis OMIM:218000
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
Mandibular prognathia, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Progressive gait atax... 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, Trismus, Delayed eruption of primary teeth, Micrognathia OMIM:616367
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... ORPHA:439822
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Spinal canal stenosi... ORPHA:950
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the maxilla, Macrodontia of... OMIM:216550
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology ORPHA:207
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Ataxia, Hypoplasia of the maxilla, Inability to walk, Difficulty walking ORPHA:481152
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses OMIM:136760
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro... OMIM:170390
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplasia of the maxilla, Kyphosis, Abnorm... ORPHA:192
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... ORPHA:50814
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia ORPHA:79113
Carpenter Syndrome 1
Sacral dimple, Persistence of primary teeth, Hypoplasia of the maxilla, Short neck, Micrognathia,... OMIM:201000
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... OMIM:101800
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Kyphoscoliosis, Micrognathia OMIM:608149
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Cowden Syndrome 5
Hypoplasia of the maxilla, Kyphosis, Scoliosis, Micrognathia OMIM:615108
Aarskog-Scott Syndrome
Short neck, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Cervical spine hypermo... OMIM:305400
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Hypoplas... OMIM:257850
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Retrognathia ORPHA:2409
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormality of the cervical spine OMIM:123500
Cowden Syndrome 6
Hypoplasia of the maxilla, Kyphosis, Scoliosis, Micrognathia OMIM:615109
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Gait disturba... OMIM:259600
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Short neck ORPHA:178303
Frontorhiny
Hypoplasia of the maxilla, Lumbar hyperlordosis, Hypoplastic frontal sinuses, Scoliosis ORPHA:391474
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Tip-toe gait ORPHA:293939
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Hypoplasia of the maxilla, Shuffling gait, Micrognathia OMIM:300534
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Scoliosis, Agenesis of central incisor, Malar flattening OMIM:252100
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Van Maldergem Syndrome 1
Sacral dimple, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Scoliosis, Malar fla... OMIM:601390
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... ORPHA:87
3Mc Syndrome 2
Prominence of the premaxilla, Abnormality of the vertebral column, Abnormal vertebral morphology,... OMIM:265050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Short neck, Hypoplasia of the maxilla, Micrognathia, Hemivertebr... OMIM:213980
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia OMIM:616462
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla OMIM:614261
Andersen-Tawil Syndrome
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi... ORPHA:37553
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Caudal appendage, Ataxia, Micrognathia ORPHA:314679
Cowden Syndrome 1
Hypoplasia of the maxilla, Kyphosis, Scoliosis, Micrognathia OMIM:158350
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic... ORPHA:560
Martsolf Syndrome 1
Hypoplasia of the maxilla, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia OMIM:212720
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Van Maldergem Syndrome 2
Sacral dimple, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Scoliosis, Malar fla... OMIM:615546
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla OMIM:601499
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Hypoplasia of the zygomatic bone, Scoliosis ORPHA:193
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Thoracic scoliosis, Kyphoscoliosis, Hypoplasia o... OMIM:602535
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Talon cusp, Micrognathia ORPHA:363417
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:277600
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Scoliosis ORPHA:251061
Recon Progeroid Syndrome
Prominence of the premaxilla, Delayed eruption of permanent teeth OMIM:620370
Shprintzen-Goldberg Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Scoliosis, Retrog... ORPHA:2462
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Punctate vertebral calcifications, Hypoplastic vertebral... OMIM:215140
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:101600
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla ORPHA:782
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Scoliosis, Retrognathia OMIM:601812
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, C1-C2 vertebral abnormality, Scoliosis OMIM:182212
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Short neck, Hypoplasia of the maxilla, Eruption... OMIM:166250
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscolios... ORPHA:1299
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth OMIM:129400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia OMIM:309520
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:304050
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis ORPHA:1101
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ve... ORPHA:861
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Ataxia, Short neck, Hypoplasia of the maxilla, Enlarged ... OMIM:139210
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Butterfly vertebrae, Scoliosis ORPHA:50
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:211380
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Craniofacial hyperostosis ORPHA:2588
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:613805
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Spinal cana... ORPHA:828
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces... OMIM:300106
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Retrognathia, Short neck OMIM:608156
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Short neck OMIM:609460
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:608328
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Micrognathia OMIM:613803
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Sacral dimple, Micrognathia OMIM:600920
Dyskeratosis Congenita
Hypoplasia of the maxilla, Taurodontia, Carious teeth, Scoliosis ORPHA:1775
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Abnormal form of the vertebral bodies, M... ORPHA:1106
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Hemivertebrae, Micrognathia OMIM:224690
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion... OMIM:610829
Rubinstein-Taybi Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Talon cusp, Dental malocclusion, Spina bifida occulta, U... OMIM:180849
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Retrognathia, Mandibular aplasia, Micrognathia ORPHA:2554
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Zttk Syndrome
Hypoplasia of the maxilla, Kyphosis, Hemivertebrae, Scoliosis 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
Mandibular prognathia, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Hemiv... ORPHA:96334
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Kyphoscoliosis OMIM:617402
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Floating-Harbor Syndrome
Broad-based gait, Kyphoscoliosis, Short neck, Hypoplasia of the maxilla, Carious teeth, Persisten... ORPHA:2044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Malar flattening, Hypoplastic sacrum, Carious teeth OMIM:604292
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of the frontal bone ORPHA:306542
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia OMIM:614437
Singleton-Merten Syndrome 1
Waddling gait, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Scoliosis, Hypoplasia ... OMIM:182250
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Primrose Syndrome
Ataxia, Hypoplasia of the maxilla, Kyphosis, Irregular vertebral endplates, Posterior scalloping ... OMIM:259050
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:614188
Peters-Plus Syndrome
Micrognathia, Hypoplasia of the maxilla, Short neck, Hemivertebrae, Agenesis of maxillary lateral... OMIM:261540
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:129900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Lumbar hyperlordosis, Hemivertebrae, Kyphoscoliosis ORPHA:500150
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Scoliosis, Malar flatten... OMIM:164210
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin OMIM:101400
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla, Scoliosis OMIM:157170
Isolated Atp Synthase Deficiency
Lethargy, Ataxia ORPHA:254913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Retrognathia, Micrognathia 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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