Phenotypes associated with this allele

• Allele Symbol: Ercc2^tm1Jhjh
• Allele Name: targeted mutation 1, Jan H J Hoeijmakers
• Allele ID: MGI:2183947
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ercc2^tm1Jhjh/Ercc2^tm1Jhjh	involves: 129P2/OlaHsd * C57BL/6	MGI:2386440
ht2	Ercc2^tm1Jhjh/Ercc2^tm2(ERCC2)Jhjh	involves: 129P2/OlaHsd * C57BL/6	MGI:2386443

Genotype
MGI:2386440

hm1

• Allelic Composition: Ercc2^tm1Jhjh/Ercc2^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:45017 )

• death at preimplantation stage

Genotype
MGI:2386443

ht2

• Allelic Composition: Ercc2^tm1Jhjh/Ercc2^{tm2(ERCC2)Jhjh}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

premature death ( J:48256 )

• most dead by 1 year

neoplasm

increased incidence of tumors by chemical induction ( J:48256 )

• increased DMBA-induced skin cancer susceptibility

increased skin tumor incidence ( J:48256 )

• increased UV- and DMBA-induced skin cancer susceptibility

increased incidence of tumors by UV-induction ( J:48256 )

• increased UV-induced skin cancer susceptibility

adipose tissue

decreased total body fat amount ( J:48256 )

• adipose tissue hypoplasia

behavior/neurological

tremors ( J:48256 )

growth/size/body

cachexia ( J:48256 )

• progressive weight loss and cachexia as death neared

postnatal growth retardation ( J:48256 )

• evident from birth

hematopoietic system

anemia ( J:48256 )

decreased erythrocyte cell number ( J:48256 )

• decreased RBC count

decreased hematocrit ( J:48256 )

abnormal hemoglobin ( J:48256 )

• decreased hemoglobin concentration

cellular

increased cellular sensitivity to ultraviolet irradiation ( J:116054 )

• increased sensitivity of MEFs to UV irradiation

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:48256 )

• increased DMBA-induced skin cancer susceptibility

integument

alopecia ( J:48256 )

• 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

brittle hair ( J:48256 )

greasy coat ( J:48256 )

abnormal hair cuticle ( J:48256 )

• abnormal cuticle structure

abnormal hair follicle morphology ( J:48256 )

• follicular plugging and dilation

hyperkeratosis ( J:48256 )

acanthosis ( J:48256 )

scaly skin ( J:48256 )

• ichthyosis, particularly in the neck region

thick skin ( J:48256 )

• ichthyosis, particularly in the neck region

increased skin tumor incidence ( J:48256 )

• 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