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Phenotypes Associated with This Genotype
Genotype
MGI:2386443
Allelic
Composition
Ercc2tm1Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc2tm1Jhjh mutation (0 available); any Ercc2 mutation (11 available)
Ercc2tm2(ERCC2)Jhjh mutation (0 available); any Ercc2 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most dead by 1 year

neoplasm
• increased DMBA-induced skin cancer susceptibility
• increased UV- and DMBA-induced skin cancer susceptibility
• increased UV-induced skin cancer susceptibility

adipose tissue
• adipose tissue hypoplasia

behavior/neurological

growth/size/body
• progressive weight loss and cachexia as death neared
• evident from birth

hematopoietic system
• decreased RBC count
• decreased hemoglobin concentration

cellular
• increased sensitivity of MEFs to UV irradiation

homeostasis/metabolism
• increased DMBA-induced skin cancer susceptibility

integument
• 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
OMIM ID Ref(s)
Trichothiodystrophy 1, Photosensitive; TTD1 601675 J:48256


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory