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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 (5 available)
Ercc2tm2(ERCC2)Jhjh mutation (0 available); any Ercc2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most dead by 1 year (J:48256)
• most dead by 1 year (J:48256)

tumorigenesis
• increased DMBA-induced skin cancer susceptibility (J:48256)
• increased DMBA-induced skin cancer susceptibility (J:48256)
• increased UV- and DMBA-induced skin cancer susceptibility (J:48256)
• increased UV- and DMBA-induced skin cancer susceptibility (J:48256)
• increased UV-induced skin cancer susceptibility (J:48256)
• increased UV-induced skin cancer susceptibility (J:48256)

adipose tissue
• adipose tissue hypoplasia (J:48256)
• adipose tissue hypoplasia (J:48256)

behavior/neurological

growth/size/body
• adipose tissue hypoplasia (J:48256)
• adipose tissue hypoplasia (J:48256)
• progressive weight loss and cachexia as death neared (J:48256)
• progressive weight loss and cachexia as death neared (J:48256)
• evident from birth (J:48256)
• evident from birth (J:48256)

hematopoietic system
• decreased RBC count (J:48256)
• decreased RBC count (J:48256)
• decreased hemoglobin concentration (J:48256)
• decreased hemoglobin concentration (J:48256)

cellular
• increased sensitivity of MEFs to UV irradiation (J:116054)
• increased sensitivity of MEFs to UV irradiation (J:116054)

homeostasis/metabolism
• increased DMBA-induced skin cancer susceptibility (J:48256)
• increased DMBA-induced skin cancer susceptibility (J:48256)

integument
• progressive hair loss, beginning at head ~P19 (J:48256)
• by 4 weeks of age, most hair absent, except a small band of fur at feet and tail (J:48256)
• new coat grew with second cycle of hair growth, but progressive hair loss again followed (J:48256)
• progressive hair loss, beginning at head ~P19 (J:48256)
• by 4 weeks of age, most hair absent, except a small band of fur at feet and tail (J:48256)
• new coat grew with second cycle of hair growth, but progressive hair loss again followed (J:48256)
• abnormal cuticle structure (J:48256)
• abnormal cuticle structure (J:48256)
• follicular plugging and dilation (J:48256)
• follicular plugging and dilation (J:48256)
• ichthyosis, particularly in the neck region (J:48256)
• ichthyosis, particularly in the neck region (J:48256)
• increased UV- and DMBA-induced skin cancer susceptibility (J:48256)
• increased UV- and DMBA-induced skin cancer susceptibility (J:48256)
• ichthyosis, particularly in the neck region (J:48256)
• ichthyosis, particularly in the neck region (J:48256)

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
02/02/2016
MGI 6.02
The Jackson Laboratory