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Phenotypes Associated with This Genotype
Genotype
MGI:2658880
Allelic
Composition
Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyp19a1tm1Sih mutation (0 available); any Cyp19a1 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• at 10-18 weeks of age, male homozygotes exhibit significantly prolonged latencies to first mount and reduced mount frequency in response to receptive stimulus females during a 30-min sexual behavior test
• 5 of 12 male homozygotes never mounted during the observation period
• however, all mutant males sniffed and licked the genital area of stimulus females, indicating potential sexual motivation
• 2 of 12 male homozygotes showed significant aggressive behavior (chasing and biting) towards estrous females during male copulatory tests, not observed in wild-type males

reproductive system
• at 10-12 weeks of age, mutant ovaries lack corpora lutea
• at 10-12 weeks of age, mutant uteri appear significantly underdeveloped relative to wild-type
• at 10-12 weeks of age, mutant uteri weigh less than 30% of wild-type uteri
• female homozygotes are infertile due to a disrupted ovarian cycle
• at 14-17 weeks of age, only 1 of 10 male homozygotes gave a high mount frequency (17 times/30 min) and sired litters
• however, no differences were noted between mutant and wild-type testes weights at 12-16 weeks of age, and mutant males had active sperm in testes and epididymides

endocrine/exocrine glands
• more salivary gland cells exhibit a fatty change than in controls
• severe inflammatory lesions with lymphocyte infiltration and tissue destruction in the salivary glands are seen in 12 month old mice
• many CD4+ T cells and B220+ cells infiltrate the salivary glands
• at 10-12 weeks of age, mutant ovaries lack corpora lutea
• severe inflammatory lesions with lymphocyte infiltration and tissue destruction in the lacrimal glands are seen in 12 month old mice

adipose tissue
• volume of abdominal white adipose tissue in females at 12 months of age is greater than in wild-type mice
• weight of white adipose tissue is increased
• at 10-12 weeks of age, homozygotes show significantly increased internal fat relative to wild-type controls
• proportion of dendritic cells and macrophages in the white adipose tissue is higher than in wild-type mice
• accumulated macrophages in adipose tissue forms a crown-like structure
• mice show an increase in number of F4/80+ macrophages in the cervical white adipose tissue around the salivary glands
• accumulation of mononuclear cells around adipocytes
• marker analysis suggests enhanced migration and maturation of activated M1 macrophages in the white adipose tissue

digestive/alimentary system
• more salivary gland cells exhibit a fatty change than in controls
• severe inflammatory lesions with lymphocyte infiltration and tissue destruction in the salivary glands are seen in 12 month old mice
• many CD4+ T cells and B220+ cells infiltrate the salivary glands

hematopoietic system
• absolute numbers of dendritic cells in 12 month old mutants is higher
• proportion of dendritic cells in the white adipose tissue is higher than in wild-type mice
• absolute numbers of macrophages in 12 month old mutants is higher
• proportion of macrophages in the white adipose tissue is higher than in wild-type mice

immune system
• severe inflammatory lesions with lymphocyte infiltration and tissue destruction in the salivary glands are seen in 12 month old mice
• many CD4+ T cells and B220+ cells infiltrate the salivary glands
• severe inflammatory lesions with lymphocyte infiltration and tissue destruction in the lacrimal glands are seen in 12 month old mice
• absolute numbers of dendritic cells in 12 month old mutants is higher
• proportion of dendritic cells in the white adipose tissue is higher than in wild-type mice
• absolute numbers of macrophages in 12 month old mutants is higher
• proportion of macrophages in the white adipose tissue is higher than in wild-type mice
• mice show the development on inflammatory lesions in the lacrimal and salivary glands after 12 months of age, resembling those of human Sjogren Syndrome
• mice exhibit higher levels of serum autoantibodies, such as anti-SSA, anti-SSB, and anti-ssDNA

vision/eye
• severe inflammatory lesions with lymphocyte infiltration and tissue destruction in the lacrimal glands are seen in 12 month old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Sjogren's syndrome DOID:12894 OMIM:270150
J:216958


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory