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Phenotypes Associated with This Genotype
Genotype
MGI:3790971
hm1
Allelic
Composition
Lrp2tm1Her/Lrp2tm1Her
Genetic
Background
either: (involves: 129S7/SvEvBrd * CD-1) or (involves: 129/SvEmcTer * 129S7/SvEvBrd * C57BL/6N)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp2tm1Her mutation (1 available); any Lrp2 mutation (261 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• the cryptorchid testis of the few mutants that survive to adulthood is characterized by degenerated germinal epithelia of the seminiferous tubules and by the absence of germ cells
• mutants exhibit a failure of cranial suspensory ligament (CSL) regression at E18.5; both the gubernaculums and CSL are still present at the lower and upper pole of the gonads, respectively, with the CSL tethering the testes and epididymi to the abdominal body wall dorsal to the kidney
• the left testis does not descend into the scrotum and is poorly developed and severely retarded in size in the few males that survive to adulthood
• as a result of the closed vagina cavity, uterine fluid accumulates in the uterus, grossly inflating the organ
• the vagina opening is closed by a septum composed of an epithelial cell layer followed by connective tissue and skin in the few females that survive to adulthood

homeostasis/metabolism
• circulating DHT is increased 2-fold in E14.5 male embryos
• circulating testosterone is increased 2-fold in E14.5 male embryos
• neither male nor female embryos respond to exogenous androgen or estrogen application, respectively, indicating steroid insensitivity

endocrine/exocrine glands
• the cryptorchid testis of the few mutants that survive to adulthood is characterized by degenerated germinal epithelia of the seminiferous tubules and by the absence of germ cells
• mutants exhibit a failure of cranial suspensory ligament (CSL) regression at E18.5; both the gubernaculums and CSL are still present at the lower and upper pole of the gonads, respectively, with the CSL tethering the testes and epididymi to the abdominal body wall dorsal to the kidney
• the left testis does not descend into the scrotum and is poorly developed and severely retarded in size in the few males that survive to adulthood


Contributing Projects:
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
12/17/2024
MGI 6.24
The Jackson Laboratory