Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
aspartic peptidase, retroviral-like 1
Synonyms:
Taps,  2300003P22Rik,  TPA-induced aspartic proteinase-like,  SASPase,  SASP

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Asprv1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Asprv1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
OMIM:146750

The table below shows human diseases predicted to be associated to Asprv1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles, Long eyelashes, Partial duplication of eyebrows OMIM:227210
Acrogeria
Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Skin... ORPHA:2500
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Redundant skin OMIM:123700
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Low anterior hairline, Aged leonine appearance, Distichiasis, Sparse hair OMIM:227260
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Prematurely aged appearance, Coarse hair, Reduced subcutaneous adipose tissue OMIM:248010
Granddad Syndrome
Progeroid facial appearance, Abnormal hair morphology, Reduced subcutaneous adipose tissue OMIM:138920
Transaldolase Deficiency
Telangiectasia, Premature skin wrinkling ORPHA:101028
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa OMIM:616603
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Premature graying of hair, Prematurely aged appearance, Dry skin, Low posterio... ORPHA:2617
Craniofaciofrontodigital Syndrome
Hypertrichosis, Palmoplantar cutis laxa, Low anterior hairline, Cutis laxa, Congenital, generaliz... ORPHA:363705
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Brittle hair, Reduced sub... ORPHA:2963
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern, Prematurely aged appearance... ORPHA:1807
Myoclonic-Astatic Epilepsy
Premature skin wrinkling, Frontal balding ORPHA:1942
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cutis laxa, Excessive wrinkled skin, Dermal translucency, Sparse hair OMIM:614438
Cog7-Cdg
Excessive wrinkled skin, Jaundice ORPHA:79333
Alg8-Cdg
Premature skin wrinkling, Cutis laxa, Abnormality of subcutaneous fat tissue ORPHA:79325
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Excessive wrinkled skin, Curly eyelashes, Alopecia, Abnormal hair pattern,... ORPHA:3051
Acquired Partial Lipodystrophy
Progeroid facial appearance, Generalized hirsutism ORPHA:79087
Ataxia-Telangiectasia
Telangiectasia of the skin, Prematurely aged appearance, Mucosal telangiectasiae, Hypopigmentatio... ORPHA:100
Progeroid Facial Appearance With Hand Anomalies
Progeroid facial appearance, Sparse hair, Reduced subcutaneous adipose tissue, Prominent superfic... OMIM:602249
Trichothiodystrophy 5, Nonphotosensitive
Tiger tail banding, Cutaneous photosensitivity, Progeroid facial appearance, Brittle hair, Cutis ... OMIM:300953
Short Syndrome
Premature skin wrinkling OMIM:269880
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance ORPHA:50811
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature skin wrinkling, Alopecia universalis, Sparse hair, Pr... ORPHA:363618
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Hypoplastic nipples, Sparse lateral eyebrow, Ectodermal dysplasia, Sparse scalp... OMIM:614941
Cog5-Cdg
Abnormality of the frontal hairline, Premature skin wrinkling ORPHA:263487
Ogden Syndrome
Fine hair, Cutis laxa, Facial wrinkling, Long eyelashes, Sparse and thin eyebrow, Minimal subcuta... OMIM:300855
Xfe Progeroid Syndrome
Dry skin, Prematurely aged appearance OMIM:610965
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Sparse axillary hair, Sparse facial hair OMIM:608154
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low posterior hairline, Prematurely aged appearance ORPHA:1387
Werner Syndrome
Progeroid facial appearance, Abnormal hair morphology, Subcutaneous calcification OMIM:277700
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Cutis laxa, Excessive wrinkled skin, Coarse hair, Abnormal subcutaneous fat ... ORPHA:357074
Hoyeraal-Hreidarsson Syndrome
Excessive wrinkled skin, Nail dystrophy, Generalized hypopigmentation of hair, Sparse scalp hair,... ORPHA:3322
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Sparse and thin eyebro... OMIM:224900
Fontaine Progeroid Syndrome
Hypertrichosis, Hypoplastic nipples, Low anterior hairline, Low posterior hairline, Coarse hair, ... OMIM:612289
Fg Syndrome Type 1
Facial wrinkling, Frontal upsweep of hair ORPHA:93932
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Short Syndrome
Excessive wrinkled skin, Sparse hair, Alopecia ORPHA:3163
Arthrogryposis Multiplex Congenita 5
Premature skin wrinkling OMIM:618947
Autosomal Dominant Cutis Laxa
Redundant neck skin, Cutis laxa, Prematurely aged appearance, Dermal translucency, Premature skin... ORPHA:90348
Opitz-Kaveggia Syndrome
Fine hair, Sparse hair, Frontal upsweep of hair, Facial wrinkling OMIM:305450
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyelashes, Cutis laxa, Progeroid facial appearance, Sparse scalp hair, Sparse and thin eye... ORPHA:75496
Mandibuloacral Dysplasia With Type A Lipodystrophy
Progeroid facial appearance, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Prematurely... ORPHA:90153
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Thick hair, Progeroid facial appearance ORPHA:357058
Laron Syndrome
Prematurely aged appearance ORPHA:633
Cardiofaciocutaneous Syndrome
Fine hair, Dry skin, Dystrophic fingernails, Excessive wrinkled skin, Brittle hair, Sparse or abs... ORPHA:1340
Wiedemann-Rautenstrauch Syndrome
Broad eyebrow, Sparse eyelashes, Reduced subcutaneous adipose tissue, Sparse scalp hair, Prematur... OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Progeroid facial appearance, Nail dystrophy, Alopecia, Prematurely aged... ORPHA:90154
Werner Syndrome
Telangiectasia of the skin, Subcutaneous calcification, White forelock, Prematurely aged appearan... ORPHA:902
Cockayne Syndrome
Fine hair, Dry hair, Cutaneous photosensitivity, Reduced subcutaneous adipose tissue, Premature s... ORPHA:191
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Dystrophic toenail, Alopecia totalis, Absent eyebrow, Prominent superfici... ORPHA:740
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Redundant skin ORPHA:1860
Pseudoxanthoma Elasticum
Excessive wrinkled skin, Telangiectasia of the skin, Striae distensae, Lack of skin elasticity, B... ORPHA:758
De Barsy Syndrome
Cutis laxa, Excessive wrinkled skin, Progeroid facial appearance, Prominent veins on trunk, Derma... ORPHA:2962
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Progeroid facial appearance, Alopecia, Prematurely aged appearan... ORPHA:2959
Ablepharon Macrostomia Syndrome
Fine hair, Sparse hair, Excessive wrinkled skin, Absent eyebrow, Abnormal hair pattern, Absent ey... ORPHA:920
Wiedemann-Rautenstrauch Syndrome
Hirsutism, Progeroid facial appearance, Reduced subcutaneous adipose tissue, Dermal translucency,... ORPHA:3455
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Premature skin wrinkling ORPHA:435628
Gapo Syndrome
Sparse eyelashes, Early balding, Alopecia, Prematurely aged appearance, Sparse and thin eyebrow ORPHA:2067
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Urticaria, Prematurely aged appearance, Cutaneous photosensitivity ORPHA:220295
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue ORPHA:1901
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Progeroid facial appearance, Alopecia ORPHA:412057
Wrinkly Skin Syndrome
Neonatal wrinkled skin of hands and feet, Short nail, Sparse hair, Palmoplantar cutis laxa OMIM:278250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Brittle h... OMIM:305100
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Down Syndrome
Prematurely aged appearance, Sparse hair ORPHA:870
Trichothiodystrophy
Tiger tail banding, Alopecia of scalp, Dystrophic fingernails, Cutaneous photosensitivity, Brittl... ORPHA:33364
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Excessive wrinkled skin, Palmoplantar cutis laxa, Bruising susceptibility, Poor wound healing OMIM:225400
Keppen-Lubinsky Syndrome
Progeroid facial appearance OMIM:614098
Seckel Syndrome
Sparse scalp hair, Prematurely aged appearance ORPHA:808
Cockayne Syndrome B
Abnormal hair morphology, Cutaneous photosensitivity, Dry hair, Progeroid facial appearance, Redu... OMIM:133540
Cockayne Syndrome A
Dry hair, Cutaneous photosensitivity, Progeroid facial appearance, Reduced subcutaneous adipose t... OMIM:216400
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin ORPHA:500
Campomelia, Cumming Type
Prematurely aged appearance ORPHA:1318
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Progeroid facial appearance, Nail dystrophy, Alopecia, Sparse scalp hair, Promi... OMIM:614008
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Progeroid facial appearance, Reduced subcutaneous adipose tissue, Generalized hirsutism, Minimal ... ORPHA:280365
Cockayne Syndrome Type 2
Progeroid facial appearance ORPHA:90322
Scleromyxedema
Generalized abnormality of skin, Aged leonine appearance ORPHA:167635
Geroderma Osteodysplasticum
Progeroid facial appearance, Cutis laxa OMIM:231070
Atypical Werner Syndrome
Abnormal hair morphology, Progeroid facial appearance, Skin ulcer, Alopecia, Telangiectasia of th... ORPHA:79474
Xeroderma Pigmentosum, Complementation Group B
Progeroid facial appearance, Cutaneous photosensitivity OMIM:610651
Marfanoid-Progeroid-Lipodystrophy Syndrome
Progeroid facial appearance, Reduced subcutaneous adipose tissue, Bruising susceptibility OMIM:616914
Wrinkly Skin Syndrome
Cutis laxa, Excessive wrinkled skin, Prominent veins on trunk, Sparse hair, Excessive skin wrinkl... ORPHA:2834
Arterial Tortuosity Syndrome
Prematurely aged appearance, Telangiectasia of the skin, Redundant skin ORPHA:3342
Acquired Generalized Lipodystrophy
Progeroid facial appearance, Generalized hirsutism ORPHA:79086
Kid Syndrome
Sparse eyelashes, Progeroid facial appearance, Nail dystrophy, Sparse eyebrow, Scarring alopecia ... ORPHA:477
Cockayne Syndrome Type 1
Progeroid facial appearance, Cutaneous photosensitivity ORPHA:90321
Classical Ehlers-Danlos Syndrome
Ecchymosis, Striae distensae, Acrocyanosis, Prematurely aged appearance, Fragile skin, Poor wound... ORPHA:287
Vascular Ehlers-Danlos Syndrome
Excessive wrinkled skin, Alopecia, Telangiectasia of the skin, Abnormality of hair texture, Prema... ORPHA:286
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Prematurely aged appearance ORPHA:909
Lenz-Majewski Hyperostotic Dwarfism
Prematurely aged appearance, Redundant skin ORPHA:2658
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Progeroid facial appearance, Erythema, Sparse axillary hair, Premature graying of... OMIM:256040
Mandibuloacral Dysplasia Progeroid Syndrome
Progeroid facial appearance, Nail dystrophy, Sparse hair, Sparse eyebrow OMIM:619127
Branchioskeletogenital Syndrome
Absent nipple, Synophrys, Periorbital wrinkles, Highly arched eyebrow ORPHA:1299
Williams Syndrome
Prematurely aged appearance, Redundant skin ORPHA:904
Ichthyosis, Lamellar, Autosomal Dominant
OMIM:146750

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 Asprv1

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 Asprv1.

No publications found that use IMPC mice or data for Asprv1.

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