Gene Summary

Name:
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Synonyms:
2810407B07Rik,  AASD-PPT,  CGI-80,  LYS5,  LYS2,  2010309J24Rik

IMPC Data Collections

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
preweaning lethality, complete penetrance Aasdhppttm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased grip strength Aasdhppttm1.1(KOMP)Vlcg HET Early adult 5.41×10-06
improved glucose tolerance Aasdhppttm1.1(KOMP)Vlcg HET Early adult 3.28×10-08
abnormal iris pigmentation Aasdhppttm1.1(KOMP)Vlcg HET Early adult 2.36×10-08
embryonic lethality prior to organogenesis Aasdhppttm1.1(KOMP)Vlcg HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Epididymis  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote Ambiguous
Ovary  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 0.0% (0 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Aasdhppt 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 Aasdhppt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Hyperinsulinemic hypoglycemia, Glucose intolerance, Developmental glaucom... OMIM:147630
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Hypoglycemia ORPHA:67048
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White ... OMIM:193510
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation, Type II diabetes mellitus ORPHA:79095
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Giant melanosomes in melanocytes, Ocular albinism, Astigmatism,... ORPHA:54
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy OMIM:275400
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Hypopigmented skin patches, White forelock, Part... OMIM:148820
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Diabetes mellitus, Blue irides, Fair hair OMIM:614613
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Microcornea, Hyperpigm... ORPHA:3214
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Premature graying of hair, White eyebrow, Ocular albinism, Hypoplasia of th... OMIM:611584
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Iris transillumination defect OMIM:619172
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Mental Retardation, Buenos Aires Type
Blue irides, Fair hair OMIM:249630
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Mental Retardation, Autosomal Recessive 38
Blue irides OMIM:615516
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Limbal dermoid ORPHA:1791
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, White eyelashes, White forelock, H... ORPHA:2884
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, White hair, Ocular albinism, Cataract, Generalized hypopigmentation ORPHA:2720
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin OMIM:614171
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis ORPHA:158000
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Silver-gray hair, White hair, Hypopigmented ski... ORPHA:381
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, White h... ORPHA:894
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Waardenburg Syndrome, Type 1
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:193500
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Posterior embryotoxon, Corneal opacity, Cata... ORPHA:912
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Noonan Syndrome 13
Cafe-au-lait spot, Blue irides, Multiple lentigines OMIM:619087
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma, Pigmentary retinopathy OMIM:214110
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Corneal opacity, Ocular albinism, Cataract, Chor... ORPHA:2719
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Cataract, Pa... ORPHA:79430
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Proteus-Like Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal de... ORPHA:2969
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Aniridia 1
Aniridia, Glucose intolerance, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypo... OMIM:106210
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hyperinsulinemia, Type II diabetes mellitus, Gen... OMIM:176270
Noonan Syndrome 4
Blue irides OMIM:610733
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Heterochromia iridis, Premature grayi... ORPHA:3440
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Iris hypopigmentation, Astigmatism ORPHA:85167
Angelman Syndrome
Keratoconus, Iris hypopigmentation, Fair hair, Astigmatism, Hypopigmentation of the skin ORPHA:72
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma, Pigmentary retinopathy OMIM:214100
Nail-Patella Syndrome
Primary congenital glaucoma, Abnormal iris pigmentation, Antecubital pterygium, Lester's sign ORPHA:2614
Down Syndrome
Brushfield spots OMIM:190685
Duane Retraction Syndrome
Aniridia, Central heterochromia, Irregular hyperpigmentation, Chorioretinal coloboma, Iris colobo... ORPHA:233
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Abnormal choroid morphology, Co... ORPHA:3205
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin ORPHA:177901
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Hermansky-Pudlak Syndrome 5
Albinism, Ocular albinism OMIM:614074
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin ORPHA:398073
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Blue irides OMIM:101800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, White eyebrow, White eyelashes, White forelock, Hypopigmented skin patches OMIM:609136
Hermansky-Pudlak Syndrome 1
Freckles in sun-exposed areas, Albinism, Freckling, Melanocytic nevus, Ocular albinism OMIM:203300
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Fair hair OMIM:610443
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Hyperpigmentation of the skin, Hypopigmentation ... ORPHA:177907
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Hermansky-Pudlak Syndrome 6
Albinism, Ocular albinism OMIM:614075
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Hermansky-Pudlak Syndrome 8
Astigmatism, Albinism, Ocular albinism OMIM:614077
Acrodysostosis With Multiple Hormone Resistance
Red hair, Diabetes mellitus, Blue irides, Fair hair ORPHA:280651
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Lisch nodules, Freckling, Heterochro... ORPHA:636
Retinoblastoma
Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis, Hypopyon ORPHA:790
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Sclerocornea ORPHA:42775
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hypopigmented skin pat... ORPHA:163746
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Iris coloboma, Heterochromia iridis ORPHA:2995
Vici Syndrome
Developmental cataract, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmentation of ... OMIM:242840
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Trisomy 8P
Astigmatism, Heterochromia iridis ORPHA:264450
Hermansky-Pudlak Syndrome 2
Albinism, Ocular albinism, Fair hair, Generalized hypopigmentation, Aberrant melanosome maturation OMIM:608233
Williams Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Flat cornea, Me... ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Blue irides, Fair hair OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Blue irides, Fair hair OMIM:129900
Williams-Beuren Syndrome
Glucose intolerance, Diabetes mellitus, Blue irides, Premature graying of hair OMIM:194050
Proteus Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Buphthalmos, Abnormality of retinal pig... ORPHA:744
1P36 Deletion Syndrome
Cataract, Ocular albinism ORPHA:1606

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 Aasdhppt

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 Aasdhppt.

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

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MGI Allele Allele Type Produced
Aasdhppttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Aasdhppttm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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