Phenotypes Associated with This Genotype

Genotype
MGI:3850221

• Allelic Composition: Errfi1^tm1Jwj/Errfi1^tm1Jwj; Pgr^tm2(cre)Lyd/Pgr⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

reproductive system

abnormal uterus morphology ( J:150007 )

♀ • mice exhibit an increase in the ratio of gland to stroma compared to in Errfi1^tm1Jwj homozygotes

♀ • however, the myometrium is not enlarged

increased endometrial gland number ( J:150007 )

♀ • the number of endometrial glands is increased compared to in Errfi1^tm1Jwj homozygotes due to increased proliferation

♀ • ovariectomized mice treated with E2 and P4 exhibit increased vascularization compared to in similarly treated Errfi1^tm1Jwj homozygotes

increased endometrial carcinoma incidence ( J:150007 )

♀ • E2-treated, ovariectomized mice develop endometrial cancer unlike similarly treated Errfi1^tm1Jwj homozygotes

♀ • however, ovariectomized mice treated with E2 and P4 do not develop endometrial cancer

♀ • neoplastic endometrial glands invade adjacent structures such as the colon, pancreas, and skeletal muscle

endometrium hyperplasia ( J:150007 )

♀ • mice develop endometrial hyperplasia

increased uterus weight ( J:150007 )

♀ • at 5 months, uterine wet weight is increased compared to in Errfi1^tm1Jwj homozygotes

♀ • after 3 months, ovectamized mice treated with E2 and P4 exhibit increased uterus weight compared to in similarly treated Errfi1^tm1Jwj homozygotes

female infertility ( J:150007 )

♀ • despite normal oocyte numbers and uterine environment, female mice are infertile

neoplasm

increased endometrial carcinoma incidence ( J:150007 )

♀ • E2-treated, ovariectomized mice develop endometrial cancer unlike similarly treated Errfi1^tm1Jwj homozygotes

♀ • however, ovariectomized mice treated with E2 and P4 do not develop endometrial cancer

♀ • neoplastic endometrial glands invade adjacent structures such as the colon, pancreas, and skeletal muscle

endocrine/exocrine glands

increased endometrial gland number ( J:150007 )

♀ • the number of endometrial glands is increased compared to in Errfi1^tm1Jwj homozygotes due to increased proliferation

♀ • ovariectomized mice treated with E2 and P4 exhibit increased vascularization compared to in similarly treated Errfi1^tm1Jwj homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
endometrial cancer		DOID:1380	OMIM:608089	J:150007