All Phenotypes Esr1<tm1.1Lja> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Esr1^tm1.1Lja/Esr1⁺	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:3798199
ht2	Esr1^tm1.1Lja/Esr1⁺	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:3798268
ht3	Esr1^tm1.1Lja/Esr1^tm1.1Mma	involves: 129P2/OlaHsd * 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3798270

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

reproductive system

enlarged endometrial glands ( J:79228 )

• mice exhibit grossly enlarged endometrial glands filled with secretory material that progresses with age

abnormal ovary morphology ( J:79228 )

• unlike in wild-type mice, ovarian stroma is increased and stromal cells contain cytoplasmic vacuoles (lipid droplets)

absent corpus luteum ( J:79228 )

abnormal tertiary ovarian follicle morphology ( J:79228 )

• antral follicles exhibit a cystic appearance and are increased in size compared to in wild-type mice

uterus cyst ( J:79228 )

• mice exhibit cystic endometrial hyperplasia such as grossly enlarged endometrial glands filled with secretory material that progresses with age

endometrium hyperplasia ( J:79228 )

• mice exhibit cystic endometrial hyperplasia

enlarged uterus ( J:79228 )

• unlike in wild-type mice, uteri are elongated and heavier

increased uterus weight ( J:79228 )

• increases in uterine weight are more pronounced with age

decreased ovulation rate ( J:79228 )

• antral follicles exhibit a cystic appearance and are increased in size compared to in wild-type mice

abnormal uterus physiology ( J:79228 )

• uterine tissue is hypersensitive to estrogen treatment

• however, uterine and vaginal tissues in an ovariectomized female respond normally to estrogen

female infertility ( J:79228 )

• while male mice are fertile, female mice are infertile

homeostasis/metabolism

decreased circulating progesterone level ( J:79228 )

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:79228 )

• female mice fail to exhibit side-branching and differentiation of ductal buds into lobuoalveolar structures

• branch points are decreased in number and alveolar bud formation is impaired

enlarged endometrial glands ( J:79228 )

• mice exhibit grossly enlarged endometrial glands filled with secretory material that progresses with age

abnormal ovary morphology ( J:79228 )

• unlike in wild-type mice, ovarian stroma is increased and stromal cells contain cytoplasmic vacuoles (lipid droplets)

absent corpus luteum ( J:79228 )

abnormal tertiary ovarian follicle morphology ( J:79228 )

• antral follicles exhibit a cystic appearance and are increased in size compared to in wild-type mice

integument

abnormal branching of the mammary ductal tree ( J:79228 )

• branch points are decreased in number and alveolar bud formation is impaired

• female mice fail to exhibit side-branching and differentiation of ductal buds into lobuoalveolar structures

growth/size/body

uterus cyst ( J:79228 )

• mice exhibit cystic endometrial hyperplasia such as grossly enlarged endometrial glands filled with secretory material that progresses with age

Allelic Composition	Esr1^tm1.1Lja/Esr1⁺
Genetic Background	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esr1^tm1.1Lja mutation (2 available); any Esr1 mutation (68 available)

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

skeleton

short femur ( J:128135 )

• at 5 months of age

abnormal bone structure ( J:128135 )

• the periosteal bone circumference is reduced compared to in wild-type mice

decreased areal bone mineral density ( J:128135 )

• areal and volumetric bone mineral density is reduced compared to wild-type mice

decreased volumetric bone mineral density ( J:128135 )

• areal and volumetric bone mineral density is reduced compared to wild-type mice

• cortical volumetric bone mineral density at the tibial metaphysis and diaphysis and in the cortical shell and posterior elements of the lumbar spine are decreased compared to wild-type mice

• cortical volumetric bone mineral density response to estrogen is attenuated unlike in wild-type mice

• however, trabecular volumetric bone mineral density is preserved at the tibia and spine

• ovariectomized mice treated with estrogen replacement exhibit attenuated prevention of bone loss in the femur areal volumetric bone mineral density

increased volumetric bone mineral density ( J:128135 )

• volumetric bone mineral density at the proximal tibial metaphysis is higher than in wild-type mice

decreased compact bone area ( J:128135 )

• cortical areas and thickness in the tibial metaphysis and diaphysis are reduced compared to in wild-type mice

decreased compact bone thickness ( J:128135 )

• cortical areas and thickness in the tibial metaphysis and diaphysis are reduced compared to in wild-type mice

decreased bone mass ( J:128135 )

• axial and or appendicular skeletal bone mass is reduced compared to in wild-type mice

reproductive system

increased uterus weight ( J:128135 )

• increased uterine weight is further increased upon treatment with estrogen

limbs/digits/tail

short femur ( J:128135 )

• at 5 months of age

Allelic Composition	Esr1^tm1.1Lja/Esr1^tm1.1Mma
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esr1^tm1.1Lja mutation (2 available); any Esr1 mutation (68 available)
Esr1^tm1.1Mma mutation (0 available); any Esr1 mutation (68 available)

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

skeleton

abnormal osteoclast physiology ( J:128135 )

• unlike in wild-type mice, bone erosion is decreased following ovariectomization

short femur ( J:128135 )

• at 5 months of age

abnormal bone structure ( J:128135 )

• the periosteal bone circumference is reduced and the endocortical circumference is increased compared to in wild-type mice

abnormal volumetric bone mineral density ( J:128135 )

• mice exhibit decreased bone mineral density

• however, volumetric bone mineral densities at the proximal tibial metaphysis and trabeculae are normal

• ovariectomized mice exhibit an increase in cortical volumetric bone mineral density

• ovariectomized mice treated with estrogen replacement exhibit an attenuated response in preventing bone loss in trabecular bone compared to bone loss in cortical bone unlike in similarly treated wild-type mice

• unlike in wild-type mice, ovariectomized mice treated with a low dose of estrogen replacement exhibit no prevention of bone loss in the femur areal volumetric bone mineral density whereas treatment with high doses of estrogen result in further decrease in areal bone mineral density

decreased volumetric bone mineral density ( J:128135 )

• cortical volumetric bone mineral density at the tibial metaphysis and diaphysis and in the cortical shell and posterior elements of the lumbar spine are decreased compared to in wild-type mice

decreased compact bone area ( J:128135 )

• cortical areas and thickness in the tibial metaphysis and diaphysis are reduced compared to in wild-type mice

decreased compact bone thickness ( J:128135 )

• cortical areas and thickness in the tibial metaphysis and diaphysis are reduced compared to in wild-type mice

decreased bone mass ( J:128135 )

• axial and or appendicular skeletal bone mass is reduced compared to in wild-type mice

abnormal bone mineralization ( J:128135 )

• unlike in wild-type mice, endocortical surface mineral apposition is increased after ovariectomization and decreased after treatment with estrogen

homeostasis/metabolism

increased circulating estradiol level ( J:128135 )

decreased circulating insulin-like growth factor I level ( J:128135 )

reproductive system

decreased uterus weight ( J:128135 )

• estrogen treatment can partially restore decreased uterine weight

immune system

abnormal osteoclast physiology ( J:128135 )

• unlike in wild-type mice, bone erosion is decreased following ovariectomization

limbs/digits/tail

short femur ( J:128135 )

• at 5 months of age

hematopoietic system

abnormal osteoclast physiology ( J:128135 )

• unlike in wild-type mice, bone erosion is decreased following ovariectomization

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