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Phenotypes Associated with This Genotype
Genotype
MGI:3575735
Allelic
Composition
Smpd3tm1Wst/Smpd3tm1Wst
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smpd3tm1Wst mutation (0 available); any Smpd3 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Growth retardation and deformations of the Smpd3tm1Wst/Smpd3tm1Wst skeleton

endocrine/exocrine glands
• the number of growth hormone expressing somatotrophic, corticotropin expressing corticotrophic, follicle-stimulating hormone- and luteinizing hormone-expressing gonadotrophic, and thyroid-stimulating hormone-expressing thyreotrophic pituicytes in the anterior lobe of the pituitary were strongly reduced
• pituicytes had nuclei that appeared small, dense, and shrunken
• ovaries contained only few primordial and primarily preantral follicles with only two or a few layers of granulose cells surrounding the zona pellucida
• maturation of female gonads was delayed
• maturation of male gonads was delayed

growth/size/body
• short stature
• homozygotes are small in size which is attributed to hypoplasia of spleen, kidney, liver, heart, pituitary glands, ovary, testis and other organs
• developed severe growth retardation at approximately E14, which persisted to the end of development and throughout life
• growth rate of newborns was less than half of wildtype

homeostasis/metabolism
• P20 but not adult males had significantly reduced T4 serum concentrations
• P20 but not adult males had significantly reduced T3 serum concentrations
• P20 males had reduced serum cortisol concentrations
• serum insulin-like growth factor levels were only 1/3 the concentration of controls, however did not observe a sphingomyelin-cholesterol storage defect

skeleton
• deformations of long bones
• deformed femurs
• deformed fibulas
• deformed tibias with decreased thickness of the cortices of tibia shafts
• small hypertrophic chondroctye zones
• delayed ossification of long bones, exhibiting only few vascular buds, indicative of the initial step of ossification, instead of exhibiting the extended secondary ossification centers seen in age matched wildtype controls

reproductive system
• ovaries contained only few primordial and primarily preantral follicles with only two or a few layers of granulose cells surrounding the zona pellucida
• maturation of female gonads was delayed
• maturation of male gonads was delayed
• seminiferous tubules of P42 males contained round secondary spermatocytes rather than mature sperm, indicating incomplete or delayed sperm maturation
• onset of reproductive age was delayed by 6-8 weeks in both males and females

limbs/digits/tail
• deformed femurs
• deformed fibulas
• deformed tibias with decreased thickness of the cortices of tibia shafts

nervous system
• the number of growth hormone expressing somatotrophic, corticotropin expressing corticotrophic, follicle-stimulating hormone- and luteinizing hormone-expressing gonadotrophic, and thyroid-stimulating hormone-expressing thyreotrophic pituicytes in the anterior lobe of the pituitary were strongly reduced
• pituicytes had nuclei that appeared small, dense, and shrunken

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:97284


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
12/10/2024
MGI 6.24
The Jackson Laboratory