Mouse Genome Informatics
hm
    Fkbp4tm1Dvds/Fkbp4tm1Dvds
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• partial embryonic lethality, observed approximately 50% the expected Mendelian ratio

reproductive system
• dorsolateral and ventral prostate lobes were less affected than anterior prostate, but had mildly dysgenic features (J:98554)
• reduced or absent anterior prostate (J:98554)
• reduced or absent anterior prostate (J:98554)
• were always malformed, however testicular histology appeared normal and all stages of spermatogenesis were observed (J:98554)
• often, seminal vesicles were around 50% of normal size on both sides, but could vary between left and right lobes and could range from about 80% of normal size to being absent (J:98554)
• 5/20 had unilateral undescended testis (J:98554)
• displayed incomplete virilization
• 15/20 males had ambiguous external genitalia and 14/20 males had easily observable nipples and areolas (J:98554)
• the uterus was completely nonreceptive to blastocyst implantation as a result of impaired progesterone (P4) functions, including a 2-fold reduction in P4 binding to the nuclear progesterone receptor (PR), a fractional reduction in the number of P4 binding sites, attenuated PR transcriptional activity, and down-regulation of several P4-regulated genes in the uterus (J:101405)
• as a result, on day 4 of pregnancy (when the uterus is under P4 influence), mutant uteri displayed reduced luminal closure and luminal epithelial proliferation while wild-type uteri exhibited luminal closure with intense stromal cell proliferation (J:101405)
• female homozygotes mated with wild-type fertile males failed to produce any offspring due to a complete implantation failure (J:101405)
• multiple attempts to mate males with mild defects to wild-type females failed to result in pregnancy (J:98554)
• male homozygotes are infertile due to partial androgen insensitivity with ambiguous external genitalia (J:101405)
• spermatozoa isolated from the epididymis exhibited reduced fertilization efficiency in vitro (J:98554)
• both in vivo and in vitro fertilization rates of ova arising from mutant females were reduced relative to wild-type females (J:101405)
• however, the number of normally ovulated or superovulated ova in mutant females was comparable to that of wild-type females, indicating normal ovulation (J:101405)
• reduced motility in vitro (J:98554)

endocrine/exocrine glands
• dorsolateral and ventral prostate lobes were less affected than anterior prostate, but had mildly dysgenic features (J:98554)
• reduced or absent anterior prostate (J:98554)
• reduced or absent anterior prostate (J:98554)
• were always malformed, however testicular histology appeared normal and all stages of spermatogenesis were observed (J:98554)
• often, seminal vesicles were around 50% of normal size on both sides, but could vary between left and right lobes and could range from about 80% of normal size to being absent (J:98554)
• 5/20 had unilateral undescended testis (J:98554)

renal/urinary system
• all males had mild to severe hypospadia

Mouse Models of Human Disease
OMIM IDRef(s)
Androgen Insensitivity Syndrome; AIS 300068 J:98554