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Phenotypes Associated with This Genotype
Genotype
MGI:4941332
Allelic
Composition
Lhx3tm1.1Sjr/Lhx3tm1.1Sjr
Genetic
Background
involves: 129S/SvEv * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lhx3tm1.1Sjr mutation (1 available); any Lhx3 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 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

growth/size/body
• dwarfism is more marked in males
• a small fraction exhibit wasting and die between P21 and P60
• 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
• proportionally smaller compared to controls
• proportionally smaller compared to controls
• reduced or absent at 6 weeks of age
• 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
• 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
• at 6 and 12 wk of age
• decreased seminal vesicle and prostate secretions at 6 weeks of age

homeostasis/metabolism
• 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
• 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


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
08/06/2019
MGI 6.14
The Jackson Laboratory