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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Wfdc15aem1Ohbo
endonuclease-mediated mutation 1, Kazuyuki Ohbo
MGI:7868144
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Wfdc15aem1Ohbo/Wfdc15aem1Ohbo involves: Slc:ICR MGI:8159461


Genotype
MGI:8159461
hm1
Allelic
Composition
Wfdc15aem1Ohbo/Wfdc15aem1Ohbo
Genetic
Background
involves: Slc:ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wfdc15aem1Ohbo mutation (0 available); any Wfdc15a mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• TUNEL staining of adult testes shows a significant increase in the number of apoptotic cells per seminiferous tubule relative to heterozygous testes
• Sertoli cells show non-junctional F-actin due to the loss of F-actin accumulation at the apical ectoplasmic specialization after stage IX
• diffusion of espin (an actin-bundling protein) is observed in Sertoli cells
• TIMP1 and F-actin (phalloidin) co-staining shows TIMP1 protein upregulation in Sertoli cells
• however, the blood-testis-barrier (BTB) is preserved
• formation of the apical ectoplasmic specialization (ES) is reduced along with the loss of spermatids
• dispersed spreading of F-actin throughout the Sertoli cell cytoplasm is noted at stage IX and later, where developing spermatids are lost
• no accumulation of actin bundles is detected around the remaining elongating spermatids
• adult testis size is visibly smaller than that in heterozygous and wild-type males
• average weight of adult testes is 47.3% smaller than that in heterozygous males
• testes show substantial dysregulation of proteases and protease inhibitors as well as activation of inflammatory pathway genes
• testicular samples exhibit an increased % of TNFalpha-positive seminiferous tubules at stages IX to XII and I, indicating an orchitis-like inflammatory response
• males show a complete loss of spermatids after seminiferous epithelium stage IX; development of spermatids is impaired at around step 9 and later
• stage VIII-XII seminiferous tubules contain abnormal round spermatids clustered in the lumen, suggestive of dying cells; however, the number of TSGA8+ round spermatids per tubule at stages VII-VIII and acrosome formation in round spermatids up to step 8 are unaffected
• disturbance of protease homeostasis and inflammatory response occur in round spermatids from the first wave of spermatogenesis
• TIMP1 protein is significantly upregulated in seminiferous tubules of stages VII to XII and I
• males show epididymal azoospermia
• TEM analysis shows that many spermatids at steps 8-9 and later contain a large vacuole in the nuclei and appear highly deformed
• seminiferous tubule lumens lack elongating spermatids of approximately step 9 and later
• a very small number of elongating spermatids showing dense and malformed nuclei with branched appearances is detected by TEM
• spermiogenesis is disrupted during the round-to-elongating transition of spermatids at step 9
• caput epididymis contains abnormal cellular bodies and lacks spermatozoa having thin heads
• cauda epididymis contains abnormal cellular bodies and lacks spermatozoa having thin heads
• adult male mice bred with wild-type females for 1 week fail to produce offspring

endocrine/exocrine glands
• Sertoli cells show non-junctional F-actin due to the loss of F-actin accumulation at the apical ectoplasmic specialization after stage IX
• diffusion of espin (an actin-bundling protein) is observed in Sertoli cells
• TIMP1 and F-actin (phalloidin) co-staining shows TIMP1 protein upregulation in Sertoli cells
• however, the blood-testis-barrier (BTB) is preserved
• formation of the apical ectoplasmic specialization (ES) is reduced along with the loss of spermatids
• dispersed spreading of F-actin throughout the Sertoli cell cytoplasm is noted at stage IX and later, where developing spermatids are lost
• no accumulation of actin bundles is detected around the remaining elongating spermatids
• adult testis size is visibly smaller than that in heterozygous and wild-type males
• average weight of adult testes is 47.3% smaller than that in heterozygous males
• testes show substantial dysregulation of proteases and protease inhibitors as well as activation of inflammatory pathway genes
• testicular samples exhibit an increased % of TNFalpha-positive seminiferous tubules at stages IX to XII and I, indicating an orchitis-like inflammatory response

cellular
• males show epididymal azoospermia
• TEM analysis shows that many spermatids at steps 8-9 and later contain a large vacuole in the nuclei and appear highly deformed
• seminiferous tubule lumens lack elongating spermatids of approximately step 9 and later
• a very small number of elongating spermatids showing dense and malformed nuclei with branched appearances is detected by TEM
• TUNEL staining of adult testes shows a significant increase in the number of apoptotic cells per seminiferous tubule relative to heterozygous testes

immune system
• testicular samples exhibit an increased % of TNFalpha-positive seminiferous tubules at stages IX to XII and I, indicating an orchitis-like inflammatory response

growth/size/body
N
• adult male mice are grossly normal and show normal body weight relative to heterozygous and wild-type males





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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory