Phenotypes associated with this allele

• Allele Symbol: Rsph1^tm1Htan
• Allele Name: targeted mutation 1, Hiromitsu Tanaka
• Allele ID: MGI:3807704
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rsph1^tm1Htan/Rsph1^tm1Htan	involves: 129S1/Sv * C57BL/6J	MGI:3807712
ht2	Rsph1^tm1Htan/Rsph1^+	involves: 129S1/Sv * C57BL/6J	MGI:3807713

Genotype
MGI:3807712

hm1

• Allelic Composition: Rsph1^tm1Htan/Rsph1^tm1Htan
• Genetic Background: involves: 129S1/Sv * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Sperm are sparse or absent in Rsph1^tm1Htan/Rsph1^tm1Htan epididymides and sometimes have abnormal heads

growth/size/body

decreased body weight ( J:138122 )

• homozygous males with slightly smaller body mass

• homozygous females with normal body mass

reproductive system

reproductive system phenotype ( J:138122 )

N • female fertility is normal

N • adult males show normal seminiferous tubule characteristics and normal weights of testes and seminal vesicles

abnormal reproductive system morphology ( J:138122 )

abnormal sperm flagellum morphology ( J:138122 )

♂ • flagella containing an axoneme, mitochondria, outer dense fibers, and fibrous sheaths are formed; however, these components are disarranged in the cytoplasm

oligozoospermia ( J:138122 )

♂ • sperm sparse or absent in epididymis

abnormal sperm head morphology ( J:138122 )

♂ • step 15 spermatids show deformation of their heads

abnormal spermatid morphology ( J:138122 )

♂ • step 15 spermatids show deformation of the heads and numerous vacuoles in the cytoplasm

increased Sertoli cell phagocytosis ( J:138122 )

♂ • elongated spermatids phagocytosed by Sertoli cells

abnormal male reproductive system physiology ( J:138122 )

♂

male infertility ( J:138122 )

♂ • matings of males with wild-type females result in vaginal plugs but fail to lead to successful pregnancies

♂ • nuclei from sperm of homozygous males capable of producing viable embryos

cellular

abnormal sperm flagellum morphology ( J:138122 )

♂ • flagella containing an axoneme, mitochondria, outer dense fibers, and fibrous sheaths are formed; however, these components are disarranged in the cytoplasm

oligozoospermia ( J:138122 )

♂ • sperm sparse or absent in epididymis

abnormal sperm head morphology ( J:138122 )

♂ • step 15 spermatids show deformation of their heads

abnormal spermatid morphology ( J:138122 )

♂ • step 15 spermatids show deformation of the heads and numerous vacuoles in the cytoplasm

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:138122 )

♂N • serum testosterone levels are normal

Genotype
MGI:3807713

ht2

• Allelic Composition: Rsph1^tm1Htan/Rsph1⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J

growth/size/body

growth/size/body region phenotype ( J:138122 )

♂N • heterozygous males show normal body mass

reproductive system

reproductive system phenotype ( J:138122 )

♂N • heterozygous males are fertile