Gene Summary

Name:
aph1 homolog A, gamma secretase subunit
Synonyms:
6530402N02Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 coat appearance Aph1atm1b(KOMP)Mbp HET Early adult 2.95×10-09
preweaning lethality, complete penetrance Aph1atm1b(KOMP)Mbp HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Aph1atm1b(KOMP)Mbp HOM   E12.5 0.00
pallor Aph1atm1b(KOMP)Mbp HOM E9.5 0.00
hyperactivity Aph1atm1b(KOMP)Mbp HET Early adult 1.68×10-07
increased bone mineral content Aph1atm1b(KOMP)Mbp HET Early adult 7.26×10-06
abnormal skin coloration Aph1atm1b(KOMP)Mbp HET   Early adult 8.40×10-06
increased respiratory quotient Aph1atm1b(KOMP)Mbp HET   Early adult 1.48×10-05
abnormal retinal outer nuclear layer morphology Aph1atm1b(KOMP)Mbp HET   Early adult 3.31×10-05
decreased total retina thickness Aph1atm1b(KOMP)Mbp HET   Early adult 2.09×10-07
pale yolk sac Aph1atm1b(KOMP)Mbp HOM E9.5 0.00
abnormal embryo size Aph1atm1b(KOMP)Mbp HOM E9.5 0.00

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
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 0.53% (3 of 571)
aorta 0.18% (1 of 564)
bone 0.0%
brain 0.71% (4 of 562)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 562)
cecum 3.1% (11 of 355)
cerebellum 0.53% (3 of 571)
cerebral cortex 0.35% (2 of 570)
esophagus 1.79% (7 of 391)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 570)
hippocampus 0.52% (3 of 573)
hypothalamus 0.35% (2 of 568)
kidney 3.55% (20 of 563)
large intestine 1.59% (9 of 566)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.18% (1 of 563)
lymph node 0.18% (1 of 568)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.35% (2 of 570)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.88% (5 of 568)
parathyroid gland 0.19% (1 of 538)
peripheral nervous system 0.35% (2 of 566)
peyers patch 0.0%
pituitary gland 0.18% (1 of 563)
prostate gland 2.1% (12 of 572)
skeletal muscle 0.0%
skin 0.18% (1 of 570)
small intestine 1.59% (9 of 567)
spinal cord 0.35% (2 of 569)
spleen 0.53% (3 of 564)
stomach 2.13% (12 of 564)
striatum 0.35% (2 of 571)
testis 1.07% (6 of 563)
thymus 0.17% (1 of 573)
thyroid gland 2.99% (17 of 568)
trachea 0.52% (3 of 572)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.8% (14 of 368)
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 1.89% (1 of 53)
axial skeleton 0.0%
brain 0.88% (4 of 453)
central nervous system ganglion 1.47% (1 of 68)
cranium 0.0%
dorsal root ganglion 1.82% (1 of 55)
ear 0.22% (1 of 455)
embryo 0.22% (1 of 448)
external ear 1.47% (1 of 68)
eye 0.22% (1 of 449)
femur pre-cartilage condensation 1.92% (1 of 52)
footplate 0.22% (1 of 450)
forearm 0.36% (1 of 276)
forebrain 0.22% (1 of 461)
forelimb 0.22% (1 of 453)
fronto-nasal process 1.85% (1 of 54)
gut 1.85% (1 of 54)
handplate 0.22% (1 of 457)
head 1.11% (5 of 450)
head mesenchyme 1.85% (1 of 54)
heart 0.0%
heart ventricle 1.85% (1 of 54)
hindbrain 1.32% (6 of 455)
hindlimb 0.22% (1 of 458)
humerus pre-cartilage condensation 1.82% (1 of 55)
inner ear 0.0%
intestine 2.04% (1 of 49)
liver 0.22% (1 of 457)
lower leg 0.37% (1 of 268)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 446)
maxillary process 0.23% (1 of 444)
mesonephros of female 0.0%
mesonephros of male 1.96% (1 of 51)
metanephros 1.96% (1 of 51)
midbrain 0.22% (1 of 449)
nasal septum 1.79% (1 of 56)
nose 1.47% (1 of 68)
notochord 1.85% (1 of 54)
oral cavity 0.22% (1 of 454)
outflow tract 1.89% (1 of 53)
pancreas 2.27% (1 of 44)
pericardium 0.0%
pharynx 1.96% (1 of 51)
radius-ulna pre cartilage condensation 1.75% (1 of 57)
rib pre-cartilage condensation 1.85% (1 of 54)
skeleton 1.39% (1 of 72)
skin 0.22% (1 of 452)
spinal cord 1.56% (1 of 64)
stomach 2.27% (1 of 44)
tail 0.22% (1 of 462)
tail somite group 0.22% (1 of 456)
thoracic vertebral cartilage condensation 2.13% (1 of 47)
tongue 2% (1 of 50)
trachea 1.85% (1 of 54)
trunk mesenchyme 1.89% (1 of 53)
umbilical artery embryonic part 1.75% (1 of 57)
umbilical vein embryonic part 1.85% (1 of 54)
upper arm 0.36% (1 of 281)
upper leg 0.36% (1 of 275)
urinary system 1.96% (1 of 51)
vibrissa 1.41% (1 of 71)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

29 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aph1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Retinitis Pigmentosa 60
Pallor OMIM:613983
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Immunodeficiency 8
Hyperactivity OMIM:615401
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinitis Pigmentosa 70
Pallor OMIM:615922
Morm Syndrome
Hyperactivity, Retinal dystrophy, Retinal atrophy ORPHA:75858
Breath-Holding Spells
Pallor OMIM:607578
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Retinitis Pigmentosa 73
Pallor OMIM:616544
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Retinitis Pigmentosa 27
Pallor OMIM:613750
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Frontal upsweep of hair, Optic atrophy OMIM:300983
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism ORPHA:85288
Hemoglobin D Disease
Pallor ORPHA:90039
Alazami-Yuan Syndrome
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... OMIM:617126
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait OMIM:619470
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Myelofibrosis
Pallor, Purpura OMIM:254450
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Coffin-Siris Syndrome 8
Thick eyebrow, Sparse scalp hair, Hyperactivity, Long eyelashes OMIM:618362
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hyperactivity, Ataxia, Broad-based gait, Hypopigmentation of hair ORPHA:411515
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder, Generalized hypopigmentation, Fair hair OMIM:261600
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Highly arched eyebrow, Hyperactivity, Sparse eyebrow OMIM:300979
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism OMIM:300434
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Irida Syndrome
Pallor ORPHA:209981
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Optic atrophy OMIM:617302
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Xq25 Microduplication Syndrome
Hyperactivity, Highly arched eyebrow, Sparse eyebrow ORPHA:521258
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Retinitis Pigmentosa 75
Pallor OMIM:617023
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Synophrys OMIM:615541
Retinitis Pigmentosa 51
Pallor OMIM:613464
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Elliptocytosis 1
Pallor OMIM:611804
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617773
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hyperactivity, Broad-based gait ORPHA:457260
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Gand Syndrome
Hyperactivity, Sparse hair OMIM:615074
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Primary Myelofibrosis
Ecchymosis, Pallor, Purpura, Petechiae ORPHA:824
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Senior-Loken Syndrome 8
Pallor OMIM:616307
Coffin-Siris Syndrome 7
Hyperactivity, Sparse scalp hair, Sagittal craniosynostosis, Thick eyebrow OMIM:618027
Cold Agglutinin Disease
Pallor ORPHA:56425
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Dense calvaria, Rod-cone dystrophy, Hyperactivity, Synophrys OMIM:252930
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Rubinstein-Taybi Syndrome 2
Hyperactivity, Long eyelashes, Hirsutism OMIM:613684
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Ck Syndrome
Hyperactivity, Abnormal cortical bone morphology OMIM:300831
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Dravet Syndrome
Pallor ORPHA:33069
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation OMIM:609053
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Dense calvaria, Hyperactivity, Synophrys OMIM:252900
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Thick eyebrow, Broad-based gait OMIM:617865
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Osteoporosis, Hyperactivity, Low posterior hairline, Attention deficit hyp... ORPHA:73272
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Synophrys OMIM:613192
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Tay-Sachs Disease
Pallor OMIM:272800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Abnormal heart m... ORPHA:453499
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
American Trypanosomiasis
Pallor ORPHA:3386
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Generalized hirsutism, Gait ataxia, Limb dystonia ORPHA:363400
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy ORPHA:369939
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Dense calvaria, Hyperactivity, Synophrys OMIM:252920
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Bone Marrow Failure Syndrome 3
Abnormality of skin pigmentation, Retinal dystrophy, Nail dystrophy, Reduced bone mineral density... OMIM:617052
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Smith-Magenis Syndrome
Hyperactivity, Retinal detachment, Synophrys OMIM:182290
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpig... OMIM:234200
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Letterer-Siwe Disease
Pallor OMIM:246400
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy ORPHA:530983
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Synophrys OMIM:615824
Childhood Absence Epilepsy
Pallor ORPHA:64280
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Gait disturbance, Hyperactivity, Curly hair, Cafe-au-lait spot ORPHA:457485
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Optic atrophy, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Craniofacial Microsomia
Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, Tetralogy of Fallot, Hydr... OMIM:164210
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Branchial anomaly, Tetralogy of Fallot, Hydrocephal... ORPHA:2162
Myoclonic-Astatic Epilepsy
Frontal balding, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Ataxia, Generalized hirsutism, Synophrys ORPHA:228402
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Synophrys OMIM:300143
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Fair hair, Red hair OMIM:614613
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Fumarase Deficiency
Pallor OMIM:606812
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Retinal degeneration, Hyperactivity, Inability to walk, Ataxia ORPHA:168491
Bor Syndrome
Branchial cyst ORPHA:107
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of the skin, Hyperactivity, Ataxia, Broad-based gait, Hypopigmen... ORPHA:98794
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Craniosynostosis, Alopecia, Ataxia OMIM:601853
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Angelman Syndrome
Progressive gait ataxia, Hypopigmentation of the skin, Hyperactivity, Broad-based gait, Fair hair OMIM:105830
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Rare Circulatory System Disease
Pallor ORPHA:98028
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cystic hygroma, Bran... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cystic hygroma, Bran... ORPHA:352665
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Aregenerative Anemia
Pallor ORPHA:101096
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Hyperpigmentation of the skin, Myelofibrosis, Long eyelashes, Hyperactivity, C... OMIM:607721
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Hypoplastic nipples, Hypermelanotic macule, Cafe-au-lait spot OMIM:618505
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Patent ductu... ORPHA:261337
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Angelman Syndrome
Optic atrophy, Optic disc pallor, Hypopigmentation of the skin, Hyperactivity, Inability to walk,... ORPHA:72
Adenohypophysitis
Pallor ORPHA:95512
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Hyperactivity, Optic nerve hypoplasia ORPHA:363686
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Joubert Syndrome 1
Highly arched eyebrow, Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dyst... OMIM:213300
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Pituitary Apoplexy
Pallor ORPHA:95613
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus ORPHA:261330
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Hyperactivity, Thick eyebrow, Synophrys OMIM:252940
Panhypophysitis
Pallor ORPHA:95513
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Prolactinoma
Pallor ORPHA:2965
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Congenital stationary night blindness ORPHA:8
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Legius Syndrome
Dystonia, Hyperactivity, Inguinal freckling, Axillary freckling, Multiple cafe-au-lait spots, Att... ORPHA:137605
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Mucopolysaccharidosis Type 3
Gait disturbance, Optic atrophy, Hirsutism, Retinal degeneration, Loss of ambulation, Coarse hair... ORPHA:581
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Glass Syndrome
Hyperactivity, Sparse hair, Broad-based gait OMIM:612313
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Hallermann-Streiff Syndrome
Fine hair, Decreased number of sternal ossification centers, Sparse eyelashes, Chorioretinal colo... OMIM:234100
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
7Q11.23 Microduplication Syndrome
Dysmetria, Craniosynostosis, Long eyelashes, Abnormality of the optic disc, Horizontal eyebrow, H... ORPHA:96121
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc OMIM:617516
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Diamond-Blackfan Anemia 1
Pallor, Intrauterine growth retardation OMIM:105650
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Degcags Syndrome
Pallor, Intrauterine growth retardation OMIM:619488
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Esophageal Atresia
Pallor ORPHA:1199
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Sparse scalp hair, Nail dystrophy OMIM:256800
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal epiphyseal oss... ORPHA:580
Blackfan-Diamond Anemia
Pallor ORPHA:124
Von Hippel-Lindau Disease
Pallor ORPHA:892
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Low posterior hairline, Optic atrophy OMIM:300612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Nijmegen Breakage Syndrome
Hyperactivity, Progressive vitiligo, Cafe-au-lait spot OMIM:251260
Oculoectodermal Syndrome
Hyperactivity, Hyperpigmentation of the skin, Supernumerary nipple OMIM:600268
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Histidinemia
Hyperactivity ORPHA:2157
Tuberous Sclerosis Complex
Hypomelanotic macule, Hyperactivity, Chorioretinal hypopigmentation, Retinal astrocytic hamartoma... ORPHA:805
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Abnormal hair whorl ORPHA:457284
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 Aph1a

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, Tissue

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