cellular
azoospermia
(
J:169035
)
• no mature sperm are apparent within the testes or epididymis at 6 weeks of age
|
mortality/aging
• a small fraction exhibit wasting and die between P21 and P60
|
• a small fraction exhibit wasting and die between P21 and P60
|
• stillbirths are seen
|
growth/size/body
• dwarfism is more marked in males
|
• detectable by P10
|
reproductive system
N |
• ovaries appear to function normally with corpora lutea and mature and immature eggs observed
|
• decreased seminal vesicle and prostate secretions at 6 weeks of age
|
• the uterine wall is thinner and lacks keratinization
|
• appears immature at 6 weeks of age, failing to reflect the varying stages of estrus
|
small uterus
(
J:169035
)
• proportionally smaller compared to controls
|
• proportionally smaller compared to controls
|
• reduced or absent at 6 weeks of age
|
azoospermia
(
J:169035
)
• no mature sperm are apparent within the testes or epididymis at 6 weeks of age
|
• at 6 and 12 wk of age
|
• significantly proportionally smaller than wild-types at 6 and 12 wk of age
|
small testis
(
J:169035
)
• at 6 and 12 wk of age
|
• indicated in males by reduced seminal vesicle and prostate secretions and reduced spermatogenesis at 6 weeks of age
|
• no litters are produced when females are crossed to wild-type males
|
• when crossed with wild-type females males produce litters at a reduced rate
• however, litter size is similar to controls
|
endocrine/exocrine glands
N |
• despite a decrease in ACTH levels, adrenal morphology appears normal
|
• expression analysis indicates deficiencies in growth hormone and thyroid stimulating hormone, beta subunit expressing cells
|
• indicated by expression analysis in females
|
• striking loss in both males and females, detectable at P1 with cells essentially undetectable by P12
|
• marked hypoplasia of the anterior lobes but not the posterior lobes in adults
|
• follicle size is reduced
|
• at 6 and 12 wk of age
|
• significantly proportionally smaller than wild-types at 6 and 12 wk of age
|
small testis
(
J:169035
)
• at 6 and 12 wk of age
|
• decreased seminal vesicle and prostate secretions at 6 weeks of age
|
homeostasis/metabolism
• at 6 and 12 weeks of age
|
• serum levels are significantly reduced at 6 weeks of age and tend to be lower at 12 weeks of age
|
• at 6 and 12 weeks of age
|
• at 6 and 12 weeks of age
|
nervous system
• expression analysis indicates deficiencies in growth hormone and thyroid stimulating hormone, beta subunit expressing cells
|
• indicated by expression analysis in females
|
• striking loss in both males and females, detectable at P1 with cells essentially undetectable by P12
|
• marked hypoplasia of the anterior lobes but not the posterior lobes in adults
|
craniofacial
• dysmorphic craniofacial shape similar to that in human patients with LHX3 mutations
|
hearing/vestibular/ear
N |
• consistent with human patients bearing the W224ter mutation, hearing is normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hypopituitarism | DOID:9406 |
OMIM:221750 OMIM:262600 OMIM:262700 OMIM:613038 OMIM:613986 |
J:169035 |