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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pcyt1btm1Mkar
targeted mutation 1, Muhammad A Karim
MGI:3045401
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pcyt1btm1Mkar/Pcyt1btm1Mkar involves: 129S1/Sv * C57BL/6J MGI:3045511
ht2
 		Pcyt1btm1Mkar/Pcyt1b+ involves: 129S1/Sv * C57BL/6J MGI:3045521
ot3
 		Pcyt1btm1Mkar/Y involves: 129S1/Sv * C57BL/6J MGI:3045529


Genotype
MGI:3045511
hm1
Allelic
Composition		 Pcyt1btm1Mkar/Pcyt1btm1Mkar
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcyt1btm1Mkar mutation (0 available); any Pcyt1b mutation (87 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased tumor incidence ( J:90150 )
• 16 month old mutant females have infiltrating tubulostromal tumors in which the cells are similar to the epithelial and interstitial stromal cells of the ovary

endocrine/exocrine glands
abnormal ovary morphology ( J:90150 )
• the percentage of mutant females with abnormal ovaries increases as the mice age from 11% at 4 weeks of age to 83% at 16 months of age
absent corpus luteum ( J:90150 )
• infertile females lack corpora lutea
absent ovarian follicles ( J:90150 )
• infertile females lack ovarian follicles
ovary hyperplasia ( J:90150 )
• ovaries from infertile females display epithelial and interstitial stromal cell hyperplasia with invagination of the epithelial cells into the interstitial stromal cell layer

homeostasis/metabolism
increased circulating follicle stimulating hormone level ( J:90150 )
• homozygous females with abnormal ovaries also have increased FSH levels
increased circulating luteinizing hormone level ( J:90150 )
• homozygous females with abnormal ovaries also have increased LH levels

reproductive system
abnormal ovary morphology ( J:90150 )
• the percentage of mutant females with abnormal ovaries increases as the mice age from 11% at 4 weeks of age to 83% at 16 months of age
absent corpus luteum ( J:90150 )
• infertile females lack corpora lutea
absent ovarian follicles ( J:90150 )
• infertile females lack ovarian follicles
ovary hyperplasia ( J:90150 )
• ovaries from infertile females display epithelial and interstitial stromal cell hyperplasia with invagination of the epithelial cells into the interstitial stromal cell layer
female infertility ( J:90150 )
• less than 50% of homozygous females are fertile when mated with wild-type males
• treatment of 4 week old females with FSH and LH for 1 month to induce ovulation produced fertility in only 3 out of 10 homozygous mutant females compared to 10 out of 10 wild-type females

growth/size/body
ovary hyperplasia ( J:90150 )
• ovaries from infertile females display epithelial and interstitial stromal cell hyperplasia with invagination of the epithelial cells into the interstitial stromal cell layer




Genotype
MGI:3045521
ht2
Allelic
Composition		 Pcyt1btm1Mkar/Pcyt1b+
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcyt1btm1Mkar mutation (0 available); any Pcyt1b mutation (87 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
absent corpus luteum ( J:90150 )
• infertile females lack corpora lutea
absent ovarian follicles ( J:90150 )
• infertile females lack ovarian follicles

reproductive system
absent corpus luteum ( J:90150 )
• infertile females lack corpora lutea
absent ovarian follicles ( J:90150 )
• infertile females lack ovarian follicles
female infertility ( J:90150 )
• fewer heterozygous females mated to either wild-type or knockout males birthed pups compared to wild-type females




Genotype
MGI:3045529
ot3
Allelic
Composition		 Pcyt1btm1Mkar/Y
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcyt1btm1Mkar mutation (0 available); any Pcyt1b mutation (87 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
seminiferous tubule degeneration ( J:90150 )
• multifocal seminiferous tubule degeneration is seen by 4 months of age
• the occurrence and severity of degeneration increases with age
testicular atrophy ( J:90150 )
• at 16 months of age mutant males have atrophic testes
abnormal spermatogenesis ( J:90150 )
• spermatogenesis is reduced
reduced male fertility ( J:90150 )
• the percentage of pregnant homozygous mutant females decreased further when mated to knockout males compared to matings with wild-type males

endocrine/exocrine glands
seminiferous tubule degeneration ( J:90150 )
• multifocal seminiferous tubule degeneration is seen by 4 months of age
• the occurrence and severity of degeneration increases with age
testicular atrophy ( J:90150 )
• at 16 months of age mutant males have atrophic testes




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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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11/12/2024
MGI 6.24 		The Jackson Laboratory