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Gene: Asprv1 MGI:1915105

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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

Order Alleles

IMPC Data Collections

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

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.

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
Lamellar Ichthyosis
Sparse hair, Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow ORPHA:313
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
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... ORPHA:2500
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Transaldolase Deficiency
Premature skin wrinkling, Telangiectasia ORPHA:101028
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Myoclonic-Astatic Epilepsy
Premature skin wrinkling, Frontal balding ORPHA:1942
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... ORPHA:2617
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... ORPHA:1807
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... ORPHA:2963
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Thick hair, Low anterior hairline, Cutis laxa, Sacral hypertrichosis... ORPHA:363705
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,... ORPHA:3051
Alg8-Cdg
Premature skin wrinkling, Abnormality of subcutaneous fat tissue, Cutis laxa ORPHA:79325
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... OMIM:231070
Cog7-Cdg
Excessive wrinkled skin, Jaundice ORPHA:79333
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
Ataxia-Telangiectasia
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Premature gray... ORPHA:100
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... OMIM:614941
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance ORPHA:50811
Short Syndrome
Premature skin wrinkling, Prominent superficial veins OMIM:269880
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Barber-Say Syndrome
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... OMIM:209885
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... ORPHA:363618
Cog5-Cdg
Abnormality of the frontal hairline, Premature skin wrinkling ORPHA:263487
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Exces... OMIM:601358
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize... ORPHA:3322
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... OMIM:614438
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance, Low posterior hairline ORPHA:1387
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Sparse facial hair, Sparse axillary hair OMIM:608154
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br... OMIM:612940
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... ORPHA:357074
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Thick hair, Progeroid facial appearance ORPHA:357058
Fg Syndrome Type 1
Frontal upsweep of hair, Facial wrinkling ORPHA:93932
Stuve-Wiedemann Syndrome 1
Sparse hair, Premature skin wrinkling OMIM:601559
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Prema... OMIM:612289
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... OMIM:224900
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Werner Syndrome
Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Abnormal hair whorl, ... ORPHA:902
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Facial wrinkling, Fine hair OMIM:305450
Short Syndrome
Sparse hair, Excessive wrinkled skin, Alopecia ORPHA:3163
Werner Syndrome
Alopecia of scalp, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcifi... OMIM:277700
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl... ORPHA:1340
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... OMIM:200110
Arthrogryposis Multiplex Congenita 5
Premature skin wrinkling OMIM:618947
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... ORPHA:90348
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... OMIM:618000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... ORPHA:90153
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa ORPHA:75496
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... OMIM:264090
Laron Syndrome
Prematurely aged appearance ORPHA:633
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Absent lower eyelashes, Dry skin, Scaling skin, ... OMIM:620370
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Redundant skin ORPHA:1860
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Cut... OMIM:606721
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... ORPHA:90154
Keppen-Lubinsky Syndrome
Premature skin wrinkling, Progeroid facial appearance ORPHA:435628
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dry hair, Fine hair, Premature skin wrinkling, Cutaneous pho... ORPHA:191
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Spars... ORPHA:2962
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Lack of skin elasticity, Excessive wrinkled skin, Bruising susceptibi... ORPHA:758
Ogden Syndrome
Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, Sparse eyebro... OMIM:300855
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe... ORPHA:740
Ablepharon Macrostomia Syndrome
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... ORPHA:920
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Progeroid facial appearance OMIM:617763
Congenital Disorder Of Glycosylation, Type Iie
Excessive wrinkled skin, Jaundice, Low anterior hairline, Hypertrichosis OMIM:608779
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearan... ORPHA:2959
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Increased subcutan... ORPHA:3455
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue ORPHA:1901
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... OMIM:608612
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Urticaria, Cutaneous photosensitivity, Prematurely aged appearance, Dry skin ORPHA:220295
Gapo Syndrome
Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding ORPHA:2067
Wrinkly Skin Syndrome
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... OMIM:278250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:305100
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... OMIM:615919
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Progeroid facial appearance ORPHA:412057
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Down Syndrome
Sparse hair, Prematurely aged appearance ORPHA:870
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Low anterior hairli... OMIM:619950
Trichothiodystrophy
Sparse scalp hair, Brittle hair, Prematurely aged appearance, Dry skin, Cutaneous photosensitivit... ORPHA:33364
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Prematurely aged appearance, Dry skin OMIM:610965
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Bruising susceptibility, Poor wound healing OMIM:225400
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... OMIM:614008
Seckel Syndrome
Sparse scalp hair, Prematurely aged appearance ORPHA:808
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan... ORPHA:79474
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin ORPHA:500
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe... OMIM:133540
Premature Aging Syndrome, Penttinen Type
Sparse hair, Prominent superficial veins, Prematurely aged appearance OMIM:601812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Premature graying of hair, Mini... ORPHA:280365
Campomelia, Cumming Type
Prematurely aged appearance ORPHA:1318
Chromosome Xp11.3 Deletion Syndrome
Progeroid facial appearance OMIM:300578
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe... OMIM:216400
Cockayne Syndrome Type 2
Progeroid facial appearance ORPHA:90322
Scleromyxedema
Generalized abnormality of skin, Aged leonine appearance ORPHA:167635
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Progeroid facial appearance OMIM:610651
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance OMIM:618150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance OMIM:616914
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin ORPHA:3342
Arterial Tortuosity Syndrome
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa OMIM:208050
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... ORPHA:2834
Kid Syndrome
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Nail d... ORPHA:477
Acquired Generalized Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79086
Cockayne Syndrome Type 1
Cutaneous photosensitivity, Progeroid facial appearance ORPHA:90321
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Frag... ORPHA:287
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Progeroid facial appearance, Cutis laxa OMIM:613177
Vascular Ehlers-Danlos Syndrome
Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of... ORPHA:286
Cerebrotendinous Xanthomatosis
Prematurely aged appearance, Prolonged neonatal jaundice ORPHA:909
Lenz-Majewski Hyperostotic Dwarfism
Prematurely aged appearance, Redundant skin ORPHA:2658
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Progeroid facial appearance OMIM:614098
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse hair, Progeroid facial appearance, Nail dystrophy, Sparse eyebrow OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 1
Progeroid facial appearance, Sparse axillary hair, Erythema, Premature graying of hair, Hypertric... OMIM:256040
Branchioskeletogenital Syndrome
Synophrys, Absent nipple, Periorbital wrinkles, Highly arched eyebrow ORPHA:1299
Williams Syndrome
Prematurely aged appearance, Redundant skin ORPHA:904
Lamellar Ichthyosis
Sparse hair, Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow ORPHA:313
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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