cellular
immune system
N |
• somatic hypermutation rates in memory B cells are normal
|
Allele Symbol Allele Name Allele ID |
Ercc2tm2(ERCC2)Jhjh targeted mutation 2, Jan H J Hoeijmakers MGI:2183949 |
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Summary |
8 genotypes
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• somatic hypermutation rates in memory B cells are normal
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
Cutaneous phenotypes of Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh and Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch mice
• most dead by 1 year
(J:48256)
|
• acquire an aged appearance beginning at 3 months of age
|
N |
• no sign of cancer predisposition after exposure to a daily dose of 80 J/m2 UV
|
• increased UV- and DMBA-induced skin cancer susceptibility
|
• show patchy depigmentation earlier and more frequently than wild-type as they age
|
• progressive weight loss and cachexia as death neared
(J:48256)
|
• cachectic dwarfism
|
• evident from birth
(J:48256)
|
• progressive with age
|
• progressive with age
|
• 84% of wild-type
|
• progressive with age
|
|
• older females (~16 months) showed ovarian dysfunction, ranging from complete anovulation to sporadic, seemingly normal, ovulation
|
|
(J:48256)
• females lose fertility over time, never produce more than one litter and never produce a litter after 6 months of age, although initial sexual development is unimpaired
(J:76608)
|
• showed signs of skeleton abnormalities
|
• reduced radiodensity of skeleton, except for skull, observed in older mice (14 months of age)
|
• adipose tissue hypoplasia, most prominent at older age
|
• benign hyperplasia of the sebaceous gland
|
• decrease in serum levels of branched-chain amino acids (valine, leucine, and isoleucine) at 6 months of age, indicating starvation
|
• following UV exposure DNA incision activity and unscheduled DNA synthesis are decreased compared to wild-type MEFs
|
• benign hyperplasia of the sebaceous gland
|
• reduced cysteine content of hair and increased fraction of intermedaite filament keratins in hair
|
• show patchy depigmentation earlier and more frequently than wild-type as they age
|
• progressive hair loss, beginning at head around P19
• by 4 weeks of age, most hair absent, except a small band of fur at feet and tail
• mew coat grew with second cycle of hair growth, but progressive hair loss again followed
|
• abnormal cuticle structure
|
• follicular plugging and dilation
|
• hyperplasia
|
• thickening of the granular layer
(J:48256)
|
• ichthyosis, particularly in the neck region
|
• ichthyosis, particulary in the neck region
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
photosensitive trichothiodystrophy | DOID:2960 | J:48256 , J:76608 |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• most dead by 1 year
|
• increased DMBA-induced skin cancer susceptibility
|
• increased UV- and DMBA-induced skin cancer susceptibility
|
• increased UV-induced skin cancer susceptibility
|
• adipose tissue hypoplasia
|
• evident from birth
|
• decreased RBC count
|
• decreased hemoglobin concentration
|
• increased sensitivity of MEFs to UV irradiation
|
• increased DMBA-induced skin cancer susceptibility
|
• progressive hair loss, beginning at head ~P19
• by 4 weeks of age, most hair absent, except a small band of fur at feet and tail
• new coat grew with second cycle of hair growth, but progressive hair loss again followed
|
• abnormal cuticle structure
|
• follicular plugging and dilation
|
• ichthyosis, particularly in the neck region
|
• ichthyosis, particularly in the neck region
|
• increased UV- and DMBA-induced skin cancer susceptibility
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
photosensitive trichothiodystrophy | DOID:2960 | J:48256 |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• normal lifespan unlike Ercc2tm2(ERCC2)Jhjh homozygotes
|
• UV sensitivity is less than in Ercc2tm2(ERCC2)Jhjh Ercc2tm1Jhjh compound heterozygotes
• decrease in UV sensitivity is not as large as in Ercc2tm2(ERCC2)Jhjh Ercc2tm2Jmch compound heterozygotes
|
N |
• full rescue of age-related cachexia that is seen in Ercc2tm2(ERCC2)Jhjh homozygotes
|
• only seen during the first hair cycle and only locally on the back
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
Cutaneous phenotypes of Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh and Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch mice
N |
• normal lifespan unlike Ercc2tm2(ERCC2)Jhjh homozygotes
|
N |
• full rescue of age-related cachexia that is seen in Ercc2tm2(ERCC2)Jhjh homozygotes
|
• partial rescue of developmental delay compared to Ercc2tm2(ERCC2)Jhjh homozygotes
|
N |
• mice do not develop osteoporosis or kyphosis any earlier than wild-type mice
|
• UV sensitivity is less than in Ercc2tm2(ERCC2)Jhjh homozygotes
|
N |
• absence of acanthosis, hyperkeratosis, and granular layer and sebacious gland hyperplasia
|
• only seen during the first hair cycle and only locally on the back
|
• less severe than in Ercc2tm2(ERCC2)Jhjh homozygotes
• only a very low frequency of broken hairs
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• surviving mice dead by 22 days of age
|
• incomplete penetrance
|
• exhibit a retarded but steady growth until 1.5 weeks, but fail to gain weight after 2-3 weeks
|
• complete absence of body fat, including subcutaneous fat
|
• seen in MEFs
|
• severe dilation of hair follicles
|
• excessive epidermal hyperkeratosis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
photosensitive trichothiodystrophy | DOID:2960 | J:76608 | ||
xeroderma pigmentosum group A | DOID:0110843 |
OMIM:278700 |
J:76608 |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice die within 2 days of birth
|
• mouse embryonic fibroblasts exhibit increased sensitivity to oxidative stress induced by paraquat treatment compared to similarly treated wild-type cells
|
• mouse embryonic fibroblasts exhibit slightly increased UV sensitivity compared to cells homozygous for either allele
|
• mice fail to grow after birth despite nursing normally
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/17/2024 MGI 6.24 |
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