Gene: Aph1a MGI:2385110
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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 |
---|---|---|---|---|---|---|
pale yolk sac | Aph1atm1b(KOMP)Mbp | HOM | E9.5 | 0.00 | ||
decreased total retina thickness | Aph1atm1b(KOMP)Mbp | HET | Early adult | 7.09×10-07 | ||
pallor | Aph1atm1b(KOMP)Mbp | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Aph1atm1b(KOMP)Mbp | HOM | Early adult | 0.00 | ||
increased bone mineral content | Aph1atm1b(KOMP)Mbp | HET | Early adult | 7.26×10-06 | ||
embryonic lethality prior to tooth bud stage | Aph1atm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
abnormal embryo size | Aph1atm1b(KOMP)Mbp | HOM | E9.5 | 0.00 | ||
abnormal coat appearance | Aph1atm1b(KOMP)Mbp | HET | Early adult | 2.81×10-09 | ||
abnormal skin coloration | Aph1atm1b(KOMP)Mbp | HET | Early adult | 1.10×10-05 | ||
hyperactivity | Aph1atm1b(KOMP)Mbp | HET | Early adult | 1.67×10-07 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Wholemount images | heterozygote | 100% (2 of 2) |
Aorta | Wholemount images | heterozygote | 100% (2 of 2) |
Bone | Wholemount images | heterozygote | 100% (2 of 2) |
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Brainstem | Wholemount images | heterozygote | 100% (2 of 2) |
Brown adipose tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebellum | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Wholemount images | heterozygote | 100% (2 of 2) |
Esophagus | Wholemount images | heterozygote | 100% (2 of 2) |
Gall bladder | Wholemount images | heterozygote | 100% (2 of 2) |
Heart | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Large intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Liver | Wholemount images | heterozygote | 100% (2 of 2) |
Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
Mammary gland | Wholemount images | heterozygote | 50% (1 of 2) |
Mesenteric lymph node | Wholemount images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Ovary | Wholemount images | heterozygote | 50% (1 of 2) |
Oviduct | Wholemount images | heterozygote | 50% (1 of 2) |
Pancreas | Wholemount images | heterozygote | 100% (2 of 2) |
Parathyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Wholemount images | heterozygote | 100% (2 of 2) |
Peyer's patch | Wholemount images | heterozygote | 100% (2 of 2) |
Prostate gland | Wholemount images | heterozygote | 50% (1 of 2) |
Skeletal muscle | Wholemount images | heterozygote | 100% (2 of 2) |
Skin | Wholemount images | heterozygote | 100% (2 of 2) |
Small intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Spleen | Wholemount images | heterozygote | 100% (2 of 2) |
Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Thymus | Wholemount images | heterozygote | 100% (2 of 2) |
Thyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Trachea | Wholemount images | heterozygote | 100% (2 of 2) |
Trigeminal V nerve | Wholemount images | heterozygote | 100% (2 of 2) |
Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
Vas deferens | Wholemount images | heterozygote | 50% (1 of 2) |
Vascular system | Wholemount images | heterozygote | 100% (2 of 2) |
White adipose tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cecum | N/A | heterozygote | Not available |
Eye | N/A | heterozygote | Not available |
Lung | N/A | heterozygote | 100% (2 of 2) |
Lymph node | N/A | heterozygote | 100% (2 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | N/A | heterozygote | Not available |
Urinary bladder | N/A | heterozygote | 100% (2 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Heart atrium | N/A | heterozygote | 100% (2 of 2) |
Axial skeleton | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Central nervous system ganglion | N/A | heterozygote | 100% (2 of 2) |
Cranium | N/A | heterozygote | 100% (2 of 2) |
Dorsal root ganglion | N/A | heterozygote | 100% (2 of 2) |
Ear | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Outer ear | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Femur pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Footplate | N/A | heterozygote | 100% (2 of 2) |
Forearm | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Fronto-nasal process | N/A | heterozygote | 100% (2 of 2) |
Gut | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 100% (2 of 2) |
Head mesenchyme | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Heart ventricle | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 100% (2 of 2) |
Hindbrain | N/A | heterozygote | 100% (2 of 2) |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Humerus pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Inner ear | N/A | heterozygote | 100% (2 of 2) |
Intestine | N/A | heterozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 100% (2 of 2) |
Lower leg | N/A | heterozygote | 100% (2 of 2) |
Lung | N/A | heterozygote | 100% (2 of 2) |
Mandibular process | N/A | heterozygote | 100% (2 of 2) |
Maxillary process | N/A | heterozygote | 100% (2 of 2) |
Mesonephros of female | N/A | heterozygote | 50% (1 of 2) |
Mesonephros of male | N/A | heterozygote | 50% (1 of 2) |
Metanephros | N/A | heterozygote | 100% (2 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Nasal septum | N/A | heterozygote | 100% (2 of 2) |
Nose | N/A | heterozygote | 100% (2 of 2) |
Notochord | N/A | heterozygote | 100% (2 of 2) |
Oral cavity | N/A | heterozygote | 100% (2 of 2) |
Outflow tract | N/A | heterozygote | 100% (2 of 2) |
Pancreas | N/A | heterozygote | 100% (2 of 2) |
N/A | heterozygote | 100% (2 of 2) | |
Pharynx | N/A | heterozygote | 100% (2 of 2) |
Radius-ulna pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Rib pre-cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Skeleton | N/A | heterozygote | 100% (2 of 2) |
Skin | N/A | heterozygote | 100% (2 of 2) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Stomach | N/A | heterozygote | 100% (2 of 2) |
Tail somite | N/A | heterozygote | 100% (2 of 2) |
Tail | N/A | heterozygote | 100% (2 of 2) |
Thoracic vertebral cartilage condensation | N/A | heterozygote | 100% (2 of 2) |
Tongue | N/A | heterozygote | 100% (2 of 2) |
Trachea | N/A | heterozygote | 100% (2 of 2) |
Trunk mesenchyme | N/A | heterozygote | 100% (2 of 2) |
Umbilical artery embryonic part | N/A | heterozygote | 100% (2 of 2) |
Umbilical vein embryonic part | N/A | heterozygote | 100% (2 of 2) |
Upper arm | N/A | heterozygote | 100% (2 of 2) |
Upper leg | N/A | heterozygote | 100% (2 of 2) |
Urinary system | N/A | heterozygote | 100% (2 of 2) |
Vibrissa | N/A | heterozygote | 100% (2 of 2) |
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% |
cecum | 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% |
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
atrium | Ambiguous |
axial skeleton | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
cranium | Ambiguous |
dorsal root ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
external ear | Ambiguous |
eye | 0.0% |
femur pre-cartilage condensation | Ambiguous |
footplate | 0.0% |
forearm | Ambiguous |
forebrain | 0.0% |
forelimb | 0.0% |
fronto-nasal process | Ambiguous |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
head mesenchyme | Ambiguous |
heart | 0.0% |
heart ventricle | Ambiguous |
hindbrain | 0.0% |
hindlimb | 0.0% |
humerus pre-cartilage condensation | Ambiguous |
inner ear | Ambiguous |
intestine | Ambiguous |
liver | 0.0% |
lower leg | Ambiguous |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
mesonephros of female | Ambiguous |
mesonephros of male | Ambiguous |
metanephros | Ambiguous |
midbrain | 0.0% |
nasal septum | Ambiguous |
nose | Ambiguous |
notochord | Ambiguous |
oral cavity | 0.0% |
outflow tract | Ambiguous |
pancreas | Ambiguous |
pericardium | Ambiguous |
pharynx | Ambiguous |
radius-ulna pre cartilage condensation | Ambiguous |
rib pre-cartilage condensation | Ambiguous |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
stomach | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
thoracic vertebral cartilage condensation | Ambiguous |
tongue | Ambiguous |
trachea | Ambiguous |
trunk mesenchyme | Ambiguous |
umbilical artery embryonic part | Ambiguous |
umbilical vein embryonic part | Ambiguous |
upper arm | Ambiguous |
upper leg | Ambiguous |
urinary system | Ambiguous |
vibrissa | Ambiguous |
Human diseases caused by Aph1a 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 predicted to be associated to Aph1a by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:143465 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Intellectual Developmental Disorder, Autosomal Dominant 33 | Hyperactivity, Chorioretinal degeneration | OMIM:616311 | |
Intellectual Developmental Disorder, Autosomal Recessive 37 | Hyperactivity, Bruxism, Aggressive behavior | OMIM:615493 | |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) | Hyperactivity | DECIPHER:19 | |
Intellectual Developmental Disorder, Autosomal Recessive 3 | Hyperactivity | OMIM:608443 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Hyperactivity, Bruxism, Aggressive behavior | ORPHA:356996 | |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome | Hyperactivity, Cafe-au-lait spot | ORPHA:436151 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Smith-Magenis syndrome | Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation | DECIPHER:8 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Intellectual Developmental Disorder, X-Linked 109 | Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... | OMIM:309548 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Fraxe Intellectual Disability | Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... | ORPHA:100973 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity, Abnormal repetitive mannerisms | OMIM:300271 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Lambert Syndrome | Branchial anomaly, Ventricular septal defect | ORPHA:1296 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Morm Syndrome | Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior | ORPHA:75858 | |
Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies | Self-injurious behavior, Hyperactivity, Aggressive behavior | OMIM:619031 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Phenylketonuria | Hyperactivity, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorde... | OMIM:261600 | |
Intellectual Developmental Disorder, X-Linked 101 | Hyperactivity, Optic atrophy | OMIM:300928 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly | Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... | OMIM:619827 | |
Developmental And Epileptic Encephalopathy 43 | Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder | OMIM:617113 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Intellectual Developmental Disorder, Autosomal Dominant 67 | Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder | OMIM:619927 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 | Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ... | ORPHA:411515 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type | Hyperactivity, Inflexible adherence to routines | OMIM:301076 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Intellectual Developmental Disorder, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
X-Linked Mandibulofacial Dysostosis | Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck | ORPHA:1131 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
Branchiogenic-Deafness Syndrome | Branchial cyst, Branchial fistula | OMIM:609166 | |
Verheij Syndrome | Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck | OMIM:615583 | |
Branchiootic Syndrome 3 | Branchial cyst | OMIM:608389 | |
Female Restricted Epilepsy With Intellectual Disability | Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors | ORPHA:101039 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Mucopolysaccharidosis, Type Iiic | Hyperactivity, Synophrys, Coarse hair, Dense calvaria, Dysphagia, Rod-cone dystrophy, Hirsutism, ... | OMIM:252930 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Branchiootic Syndrome 1 | Branchial fistula | OMIM:602588 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Mucopolysaccharidosis, Type Iiib | Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Dense calvaria, Hirsutism | OMIM:252920 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Pallor | OMIM:609053 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Branchiogenic Deafness Syndrome | Branchial cyst, Branchial fistula | ORPHA:50815 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome | Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... | ORPHA:453499 | |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome | Branchial cyst | ORPHA:435938 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Branchiootic Syndrome | Branchial fistula | ORPHA:52429 | |
Holoprosencephaly | Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... | ORPHA:2162 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
Bor Syndrome | Branchial cyst | ORPHA:107 | |
Hereditary Spherocytosis | Pallor, Skin ulcer | ORPHA:822 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Branchiootorenal Syndrome 1 | Branchial cyst, Branchial fistula | OMIM:113650 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Oligomeganephronia | Branchial cyst, Secundum atrial septal defect | ORPHA:2260 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Dominant Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:231226 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation | Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... | ORPHA:453504 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion | Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... | ORPHA:352665 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Distal 22Q11.2 Microdeletion Syndrome | Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect | ORPHA:261330 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Distal 22Q11.2 Microduplication Syndrome | Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... | ORPHA:261337 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Beta-Thalassemia Major | Pallor, Skin ulcer | ORPHA:231214 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
Incontinentia Pigmenti | Erythema, Pallor | OMIM:308300 | |
Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
Neurodegeneration With Brain Iron Accumulation 1 | Hyperactivity, Hyperpigmentation of the skin, Optic atrophy, Phonic tics, Pigmentary retinopathy,... | OMIM:234200 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation | Branchial anomaly | ORPHA:466950 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Treacher-Collins Syndrome | Encephalocele, Branchial fistula, Patent ductus arteriosus | ORPHA:861 | |
8Q24.3 Microdeletion Syndrome | Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... | ORPHA:508488 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor | OMIM:227645 | |
Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Spina bifida occulta, Pallor | OMIM:105650 | |
Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
Esophageal Atresia | Pallor | ORPHA:1199 | |
Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Branchial cyst, Natal tooth, Atrial septal defect, Patent foramen ovale, Right ventricular hypert... | OMIM:620186 | |
Fanconi Anemia, Complementation Group E | Anemic pallor | OMIM:600901 | |
Fanconi Anemia, Complementation Group A | Anemic pallor | OMIM:227650 | |
Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
Tsh-Secreting Pituitary Adenoma | Pallor | ORPHA:91347 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
Diamond-Blackfan Anemia | Pallor | ORPHA:124 | |
Autosomal Recessive Malignant Osteopetrosis | Pallor | ORPHA:667 | |
Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
Fanconi Anemia, Complementation Group D2 | Anemic pallor | OMIM:227646 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
Craniofacial Microsomia 1 | Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... | OMIM:164210 | |
Branchiooculofacial Syndrome | Branchial anomaly, Low posterior hairline, Short neck | OMIM:113620 | |
Witteveen-Kolk Syndrome | Branchial fistula | OMIM:613406 | |
Goodpasture Syndrome | Pallor | OMIM:233450 | |
Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
Congenital Total Pulmonary Venous Return Anomaly | Pallor | ORPHA:99125 |
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 Aph1a.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae. | The Journal of comparative neurology (October 2019) | Aph1atm1b(KOMP)Mbp | 31609468 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Aph1atm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Aph1atm1e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
Aph1atm1b(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Mice |
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