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Phenotypes Associated with This Genotype
Genotype
MGI:6283591
Allelic
Composition
Nf1Mhdadsk9/Nf1+
Genetic
Background
involves: C3HeB/FeJ * C57BL/6
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Mouse lines carrying:
Nf1Mhdadsk9 mutation (1 available); any Nf1 mutation (161 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• males exhibit disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen
• males exhibit exfoliation of spermatocytes and immature (round and elongating) spermatids into the seminiferous tubule lumen, suggesting altered Sertoli-spermatocyte and Sertoli-spermatid junctions
• all males show mild to moderate degeneration of seminiferous tubules, unlike wild-type control males
• mild alterations include detachment of the germinal epithelium from the basal lamina, vacuolation, and atypical residual bodies
• moderate alterations include disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the lumen
• Leydig cell number is significantly lower than that in wild-type control males with no significant increase in interstitial space
• however, Sertoli cell number is relatively normal
• testicular volume is significantly higher than that in wild-type control males
• however, seminiferous tubule area is relatively normal
• caudal epididymal sperm counts are significantly higher than those of wild-type control males
• males exhibit abnormal spermatids with enlarged heads, suggesting altered junctional dynamics
• males exhibit abnormal spermatid morphology with enlarged heads and atypical residual bodies, suggesting lower sperm quality
• the number of immature (round or elongated) spermatids is significantly higher than that in wild-type control males
• however, the total number of germ cells is relatively normal
• males exhibit abnormal spermatid morphology associated with alterations in spermiation
• when heterozygous males are crossed to wild-type females, the average litter size is ~50% lower than that produced from wild-type males crossed to heterozygous females (4.00 +/- 1.2 versus 8.67 +/- 0.76)
• however, the number of days between litters is not significantly altered
• males are able to reproduce but exhibit significantly fewer pups per litter than wild-type control males

endocrine/exocrine glands
• males exhibit disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen
• males exhibit exfoliation of spermatocytes and immature (round and elongating) spermatids into the seminiferous tubule lumen, suggesting altered Sertoli-spermatocyte and Sertoli-spermatid junctions
• all males show mild to moderate degeneration of seminiferous tubules, unlike wild-type control males
• mild alterations include detachment of the germinal epithelium from the basal lamina, vacuolation, and atypical residual bodies
• moderate alterations include disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the lumen
• Leydig cell number is significantly lower than that in wild-type control males with no significant increase in interstitial space
• however, Sertoli cell number is relatively normal
• testicular volume is significantly higher than that in wild-type control males
• however, seminiferous tubule area is relatively normal

cellular
• males exhibit abnormal spermatids with enlarged heads, suggesting altered junctional dynamics
• males exhibit abnormal spermatid morphology with enlarged heads and atypical residual bodies, suggesting lower sperm quality
• the number of immature (round or elongated) spermatids is significantly higher than that in wild-type control males
• however, the total number of germ cells is relatively normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis 1 DOID:0111253 OMIM:162200
J:269534


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