Phenotypes associated with this allele

• Allele Symbol: Esr1⁺
• Allele Name: wild type
• Allele ID: MGI:2438498
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Esr1^tm1.1(cre)And/Esr1^+	B6.129S6(Cg)-Esr1^tm1.1(cre)And	MGI:5559349
ht2	Esr1^tm1Ksk/Esr1^+	involves: 129P2/OlaHsd	MGI:4398701
ht3	Esr1^tm1.1Lja/Esr1^+	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:3798199
ht4	Esr1^tm1.1Lja/Esr1^+	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:3798268
cx5	Apc^Min/Apc^+ Esr1^tm1.1Mma/Esr1^+	involves: 129S2/SvPas * C57BL/6J	MGI:5298871
cx6	Esr1^tm1.1Mma/Esr1^+ Esr2^tm1Mma/Esr2^tm1Mma	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3798306

Genotype
MGI:5559349

ht1

• Allelic Composition: Esr1^{tm1.1(cre)And}/Esr1⁺
• Genetic Background: B6.129S6(Cg)-Esr1^{tm1.1(cre)And}

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

behavior/neurological

decreased aggression towards mice ( J:207677 )

• photostimulation does not elicit aggression in males injected with an AAV (adenoassociated virus) in which cre activity results in deletion of the channelrhodopsin2 sequence; AAV-injected control males show attack behavior upon photostimulation

• mice injected with an AAV encoding NpHR3.0 (inhibitor of Esr1-expressing neuron activity) and photostimulated at the moment of approach can show either prevention of initiation of attack or interruption of an ongoing attack (sometimes even retreat) while mice injected with an AAV encoding mCherry only do not show interruption of attack upon photostimulation

increased aggression towards mice ( J:207677 )

• photostimulation of Esr1 expressing neurons in the ventrolateral subdivision of the ventromedial hypothalamus (VMHvl) in males injected with a cre-activated adenoassociated virus (AAV) with a floxed channelrhodopsin 2/mCherry (ChR2/mCherry) cassette in reverse orientation results in intense attack towards female and castrated male intruders (cre expression results in inversion of the ChR2 cassette followed by expression in Esr1 positive neurons)

abnormal social investigation ( J:207677 )

• males injected with an adenoassociated virus (AAV) encoding channelrhodopsin2 show increased numbers and duration of close investigation episodes with weak ChR2 expression or low intensity photostimulation; such conditions also promote mounting behavior towards castrated males or female mice with longer latency than for attack behavior

• mice injected with an AAV encoding NpHR3.0 (inhibitor of Esr1-expressing neuron activity) and photostimulated showed interruption of ongoing close investigation

Genotype
MGI:4398701

ht2

• Allelic Composition: Esr1^tm1Ksk/Esr1⁺
• Genetic Background: involves: 129P2/OlaHsd

reproductive system

abnormal testis morphology ( J:112350 )

♂ • at 21 to 25 weeks of age in 4 males 5 of 8 testis were retracted up to near the bladder neck

♂ • however, external examination did not reveal any defect in testicular descent

muscle

abnormal cremaster muscle morphology ( J:112350 )

♂ • the cremaster sac is smaller in length and width and has a much thicker layer of cremaster muscle

♂ • cross sectional width of the cremaster muscle at its abdominal wall attachment and at its tip is about twice that of wild-type controls

endocrine/exocrine glands

abnormal testis morphology ( J:112350 )

♂ • at 21 to 25 weeks of age in 4 males 5 of 8 testis were retracted up to near the bladder neck

♂ • however, external examination did not reveal any defect in testicular descent

Genotype
MGI:3798199

ht3

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

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 )

♀ • 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

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

Genotype
MGI:3798268

ht4

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

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

Genotype
MGI:5298871

cx5

• Allelic Composition: Apc^Min/Apc⁺; Esr1^tm1.1Mma/Esr1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

neoplasm

increased gastrointestinal tumor incidence ( J:118600 )

• mice develop increased tumors in the small and large intestines, including the cecum and one third of the colons, compared with Apc^min heterozygotes

• mice develop sessile and pedunculated forms of colonic adenomas unlike Apc^min heterozygotes

• while tumor progression is stimulated to a greater extent than in Apc^min heterozygotes, tumor initiation is the same

increased colon adenoma incidence ( J:118600 )

• noninvasive

increased carcinoma incidence ( J:118600 )

• all mice develop invasive carcinomas in the intestine and colon unlike Apc^min heterozygotes

digestive/alimentary system

abnormal enterocyte proliferation ( J:118600 )

• increased proliferation of cells in the colon

abnormal intestinal mucosa morphology ( J:118600 )

• some mice exhibit abnormal submucosal with thickening of the muscularis mucosae and enrichment of stromal components compared with Apc^min heterozygotes

abnormal large intestine crypts of Lieberkuhn morphology ( J:118600 )

• some mice exhibit reduced crypt length and distortion of surface epithelial cells in the colon compared with control mice

abnormal colon goblet cell morphology ( J:118600 )

• fewer mature goblet cells in the colon with prevalent pregoblet cells

increased gastrointestinal tumor incidence ( J:118600 )

• mice develop increased tumors in the small and large intestines, including the cecum and one third of the colons, compared with Apc^min heterozygotes

• mice develop sessile and pedunculated forms of colonic adenomas unlike Apc^min heterozygotes

• while tumor progression is stimulated to a greater extent than in Apc^min heterozygotes, tumor initiation is the same

increased colon adenoma incidence ( J:118600 )

• noninvasive

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:118600 )

• some mice exhibit reduced crypt length and distortion of surface epithelial cells in the colon compared with control mice

abnormal colon goblet cell morphology ( J:118600 )

• fewer mature goblet cells in the colon with prevalent pregoblet cells

cellular

abnormal colon goblet cell morphology ( J:118600 )

• fewer mature goblet cells in the colon with prevalent pregoblet cells

abnormal enterocyte proliferation ( J:118600 )

• increased proliferation of cells in the colon

Genotype
MGI:3798306

cx6

• Allelic Composition: Esr1^tm1.1Mma/Esr1⁺; Esr2^tm1Mma/Esr2^tm1Mma
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

reproductive system

impaired granulosa cell differentiation ( J:64426 )

♀ • unlike in wild-type mice, follicles exhibit a marked deficiency in granulose cells

absent corpus luteum ( J:64426 )

♀

increased tertiary ovarian follicle number ( J:64426 )

♀ • mice exhibit increased antral follicle numbers compared to in wild-type mice

♀ • however, no cysts form and interstitial glandular cell organization is normal

reduced female fertility ( J:64426 )

♀ • despite the fertility of male mice, female mice exhibit reduced fertility to infertility

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:64426 )

• mice fail to superovulate when treated with gonadotropins because follicles reach a preovulatory stage but fail to mature unlike in similarly treated wild-type mice

endocrine/exocrine glands

impaired granulosa cell differentiation ( J:64426 )

♀ • unlike in wild-type mice, follicles exhibit a marked deficiency in granulose cells

absent corpus luteum ( J:64426 )

♀

increased tertiary ovarian follicle number ( J:64426 )

♀ • mice exhibit increased antral follicle numbers compared to in wild-type mice

♀ • however, no cysts form and interstitial glandular cell organization is normal

cellular

impaired granulosa cell differentiation ( J:64426 )

♀ • unlike in wild-type mice, follicles exhibit a marked deficiency in granulose cells