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Gene: Aasdhppt MGI:1914868

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Gene Summary

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

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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
embryonic lethality prior to organogenesis Aasdhppttm1.1(KOMP)Vlcg HOM   E9.5 0.00
abnormal iris pigmentation Aasdhppttm1.1(KOMP)Vlcg HET Early adult 1.30×10-08
improved glucose tolerance Aasdhppttm1.1(KOMP)Vlcg HET   Early adult 3.68×10-09
preweaning lethality, complete penetrance Aasdhppttm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased grip strength Aasdhppttm1.1(KOMP)Vlcg HET Early adult 9.50×10-06

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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

10 Images

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Adult LacZ

LacZ Images Section

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View 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
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation, Iris tran... OMIM:619165
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Hypoglycemia, Cataract ORPHA:67048
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Type II diabetes mellitus, Developmental cata... OMIM:147630
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, White eyelashes, White eyebrow, Numerous pigmented freckles,... OMIM:193510
Oculocutaneous Albinism Type 1
Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect... ORPHA:352731
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentati... ORPHA:54
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Albinism, Oculocutaneous, Type Vii
Albinism, Iris transillumination defect OMIM:615179
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Phenylketonuria
Fair hair, Cataract, Blue irides, Generalized hypopigmentation OMIM:261600
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia OMIM:275400
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Woolly Hair Nevus
Patchy hypopigmentation of hair, Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, White forelock, Heterochromia iridis, Blue... OMIM:148820
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta... OMIM:611584
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmented ski... ORPHA:3214
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Diabetes mellitus, Red hair, Blue irides OMIM:614613
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormality of retinal pigmentation ORPHA:1390
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair OMIM:619172
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Astigmatism, Hypopigmentation of hair, Blue irides, White hair, Absent... OMIM:203100
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Hermansky-Pudlak Syndrome 8
Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Silver-gr... OMIM:614077
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Frontofacionasal Dysplasia
Brushfield spots, Limbal dermoid, Microcornea, Iris coloboma, Cataract ORPHA:1791
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Piebaldism
Piebaldism, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Hypopigme... ORPHA:2884
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Hermansky-Pudlak Syndrome 5
Albinism, Iris transillumination defect, Ocular albinism OMIM:614074
Tonne-Kalscheuer Syndrome
Blue irides OMIM:300978
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Cataract, White hair ORPHA:2720
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Griscelli Syndrome
Premature graying of hair, Iris hypopigmentation, Hypopigmented skin patches, Silver-gray hair, W... ORPHA:381
Waardenburg Syndrome Type 1
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, Hypopigmen... ORPHA:894
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Uveitis ORPHA:158000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
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
Premature graying of hair, White eyelashes, White eyebrow, Hypoplastic iris stroma, White foreloc... OMIM:193500
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Abnormal chorioretinal morphology, Cataract, Corneal opa... ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Noonan Syndrome 13
Cafe-au-lait spot, Blue irides, Multiple lentigines OMIM:619087
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract, Cornea... ORPHA:2719
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Proteus-Like Syndrome
Abnormal pupil morphology, Irregular hyperpigmentation, Limbal dermoid, Cataract, Heterochromia i... ORPHA:2969
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Hypopigm... ORPHA:79430
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... OMIM:214500
Waardenburg Syndrome
Abnormality of skin pigmentation, Premature graying of hair, Hypopigmented skin patches, White fo... ORPHA:3440
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Chorioretinal hypopigmentation, Corneal neovascularizati... OMIM:106210
Noonan Syndrome 4
Blue irides OMIM:610733
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Iris hypopigmentation, Astigmatism, Keratoconus ORPHA:72
Nail-Patella Syndrome
Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign ORPHA:2614
Prader-Willi Syndrome
Hyperinsulinemia, Hypopigmentation of the skin, Generalized hypopigmentation, Type II diabetes me... OMIM:176270
Sturge-Weber Syndrome
Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochromia iridis, Co... ORPHA:3205
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Duane Retraction Syndrome
Abnormal pupil morphology, Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central ... ORPHA:233
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Koolen-De Vries Syndrome
Fair hair, Iris hypopigmentation, Cataract OMIM:610443
Prader-Willi-Like Syndrome
Diabetes mellitus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398073
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Familial Dysautonomia
Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion ORPHA:1764
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:614866
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... ORPHA:177907
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Blue irides OMIM:101800
Nail-Patella Syndrome
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia OMIM:161200
Chédiak-Higashi Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu... ORPHA:167
Baraitser-Winter Cerebrofrontofacial Syndrome
Iris coloboma, Heterochromia iridis, Microcornea ORPHA:2995
Knobloch Syndrome 1
Iris transillumination defect, Developmental cataract, Lens subluxation, Chorioretinal atrophy, B... OMIM:267750
Hermansky-Pudlak Syndrome 6
Albinism, Hypopigmentation of the skin, Ocular albinism OMIM:614075
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Diabetes mellitus, Red hair, Blue irides ORPHA:280651
Neurofibromatosis Type 1
Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin patches, Abnormality of reti... ORPHA:636
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis OMIM:609136
Retinoblastoma
Leukocoria, Uveitis, Abnormality of retinal pigmentation, Heterochromia iridis, Hypopyon ORPHA:790
Phace Syndrome
Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea ORPHA:42775
Neuroocular Syndrome
Brushfield spots, Lens coloboma, Microcornea, Iris coloboma, Peters anomaly, Cataract, Blue iride... OMIM:619539
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
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Trisomy 8P
Astigmatism, Heterochromia iridis ORPHA:264450
Hermansky-Pudlak Syndrome 2
Generalized hypopigmentation, Ocular albinism, Fair hair, Albinism, Aberrant melanosome maturation OMIM:608233
Williams Syndrome
Megalocornea, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Type II diabetes mellitus, C... ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Fair hair, Blue irides, Generalized hypopigmentation OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Fair hair, Blue irides, Generalized hypopigmentation OMIM:129900
Down Syndrome
Brushfield spots OMIM:190685
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Albinism, Developmental cataract, Hypopigmentation... OMIM:242840
Williams-Beuren Syndrome
Diabetes mellitus, Blue irides, Glucose intolerance, Premature graying of hair OMIM:194050
Proteus Syndrome
Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Central heteroc... 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
Aasdhppttm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Aasdhppttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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