Phenotypes associated with this allele

• Allele Symbol: Esr1^tm1Arnal
• Allele Name: targeted mutation 1, Jean-Francois Arnal
• Allele ID: MGI:3833893
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Esr1^tm1Arnal/Esr1^tm1Arnal	involves: C57BL/6	MGI:3833894
cx2	Esr1^tm1Arnal/Esr1^tm1Arnal Ldlr^tm1Her/Ldlr^tm1Her	involves: 129S7/SvEvBrd	MGI:3833896

Genotype
MGI:3833894

hm1

• Allelic Composition: Esr1^tm1Arnal/Esr1^tm1Arnal
• Genetic Background: involves: C57BL/6

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

reproductive system

infertility ( J:144952 )

• both male and female mice are infertile

homeostasis/metabolism

increased circulating testosterone level ( J:171276 )

• in female mice

increased circulating estradiol level ( J:171276 )

• in female mice

increased circulating luteinizing hormone level ( J:171276 )

• in female mice

abnormal response/metabolism to endogenous compounds ( J:144952 , J:171276 )

• a modest increase in uterine weight is observed in mice treated with estrogen compared to the large increase observed in treated wild-type controls (J:144952)

• endothelial tissues, but not reproductive tissues, are still responsive to estrogen (i.e. nitrous oxide release) (J:144952)

• estradiol treatment restores areal bone mineral density following ovariectomy but does not increase it as in wild-type mice (J:171276)

• estradiol-treated, ovariectomized mice fail to exhibit an increase in trabecular bone parameters (trabecular bone volume and trabecular number) unlike similarly treated wild-type mice (J:171276)

• estradiol-treated, ovariectomized mice exhibit a reduced increase in uterine weight, decrease in bone marrow cellularity, decrease in thymus weight, decrease in B cell frequency in the bone marrow, and increase in IgA secretion compared with similarly treated wild-type mice (J:171276)

• however, ovariectomized mice treated with estradiol exhibit a normal increase in cortical bone thickness and liver weight (J:171276)

skeleton

increased osteoclast cell number ( J:171276 )

• in estradiol-treated, ovariectomized mice

abnormal skeleton physiology ( J:171276 )

• estradiol treatment restores areal bone mineral density following ovariectomy but does not increase it as in wild-type mice

• estradiol-treated, ovariectomized mice fail to exhibit an increase in trabecular bone parameters (trabecular bone volume and trabecular number) unlike similarly treated wild-type mice

• however, ovariectomized mice treated with estradiol exhibit a normal increase in cortical bone thickness

immune system

increased osteoclast cell number ( J:171276 )

• in estradiol-treated, ovariectomized mice

abnormal immunoglobulin level ( J:171276 )

• estradiol-treated, ovariectomized mice exhibit a reduced increased in IgA secretion compared with similarly treated wild-type mice

hematopoietic system

increased osteoclast cell number ( J:171276 )

• in estradiol-treated, ovariectomized mice

abnormal immunoglobulin level ( J:171276 )

• estradiol-treated, ovariectomized mice exhibit a reduced increased in IgA secretion compared with similarly treated wild-type mice

Genotype
MGI:3833896

cx2

• Allelic Composition: Esr1^tm1Arnal/Esr1^tm1Arnal; Ldlr^tm1Her/Ldlr^tm1Her
• Genetic Background: involves: 129S7/SvEvBrd

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:144952 )

• estrogen fails to prevent fatty streak deposits in the aorta of these mice as it does in Ldlr null homozygote controls

cardiovascular system

increased susceptibility to atherosclerosis ( J:144952 )

• lacking functional Ldlr receptors makes these mice prone to developing atherosclerosis