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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kpna6Gt(AJ0609)Wtsi
gene trap AJ0609, Wellcome Trust Sanger Institute
MGI:3856636
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kpna6Gt(AJ0609)Wtsi/Kpna6Gt(AJ0609)Wtsi B6N.129P2-Kpna6Gt(AJ0609)Wtsi MGI:7310300
hm2
Kpna6Gt(AJ0609)Wtsi/Kpna6Gt(AJ0609)Wtsi involves: 129P2/OlaHsd * C57BL/6 MGI:5004870
ht3
Kpna6Gt(AJ0609)Wtsi/Kpna6tm1Bdr B6N.Cg-Kpna6Gt(AJ0609)Wtsi Kpna6tm1Bdr MGI:7310311


Genotype
MGI:7310300
hm1
Allelic
Composition
Kpna6Gt(AJ0609)Wtsi/Kpna6Gt(AJ0609)Wtsi
Genetic
Background
B6N.129P2-Kpna6Gt(AJ0609)Wtsi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kpna6Gt(AJ0609)Wtsi mutation (0 available); any Kpna6 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born at lower than predicted Mendelian ratios (16% versus expected 25%)

growth/size/body
• at 16 weeks of age, males show a significant reduction in body weight that is comparable to that observed in Kpna6tm1Bdr homozygous males
• male mice exhibit significant postnatal growth retardation, although younger mice are less affected

reproductive system
N
• adult male mice are fertile and display normal relative testis weight and size
• H&E staining showed aberrant sperm orientation in the seminiferous tubules
• however, sperm transport through the seminiferous epithelium is normal and no residual sperm are detected in stage IX-XII tubules
• vimentin-based filaments are no longer stretched across the Sertoli cell cytosol but appear to be retracted and wrapped around the cell nuclei, indicating a defect in vimentin distribution
• however, beta-III tubulin organization in Sertoli cells is normal
• at 12-18 weeks of age, number of Sertoli cells per tubule is significantly lower than in wild-type controls
• however, Sertoli cell numbers are normal at 4 weeks of age
• aberrant localization of Sertoli cell nuclei is frequently observed in the seminiferous tubules
• immunofluorescence showed a marked reduction of the androgen receptor (AR) in Sertoli cell nuclei
• immunological blood-testis barrier (BTB) appears to be slightly impaired as antibodies against testicular antigens are occasionally present
• however, no major changes in BTB integrity are detected in a biotin diffusion assay
• onset of the first wave of spermatogenesis is significantly delayed, consistent with Sertoli cell dysfunction
• surprisingly, total cauda epididymal sperm count is significantly lower than in wild-type males
• number of step 1-8 round spermatids is significantly decreased
• however, ratio of round spermatids to pachytene spermatocytes is normal
• number of leptotene/zygotene spermatocytes is markedly decreased in stages X-XI
• however, no further decrease is seen in the number of stage I-VIII pachytene spermatocytes
• ratio of pachytene to leptotene spermatocytes is normal

cellular
• surprisingly, total cauda epididymal sperm count is significantly lower than in wild-type males
• number of step 1-8 round spermatids is significantly decreased
• however, ratio of round spermatids to pachytene spermatocytes is normal
• number of leptotene/zygotene spermatocytes is markedly decreased in stages X-XI
• however, no further decrease is seen in the number of stage I-VIII pachytene spermatocytes
• ratio of pachytene to leptotene spermatocytes is normal

endocrine/exocrine glands
• H&E staining showed aberrant sperm orientation in the seminiferous tubules
• however, sperm transport through the seminiferous epithelium is normal and no residual sperm are detected in stage IX-XII tubules
• vimentin-based filaments are no longer stretched across the Sertoli cell cytosol but appear to be retracted and wrapped around the cell nuclei, indicating a defect in vimentin distribution
• however, beta-III tubulin organization in Sertoli cells is normal
• at 12-18 weeks of age, number of Sertoli cells per tubule is significantly lower than in wild-type controls
• however, Sertoli cell numbers are normal at 4 weeks of age
• aberrant localization of Sertoli cell nuclei is frequently observed in the seminiferous tubules
• immunofluorescence showed a marked reduction of the androgen receptor (AR) in Sertoli cell nuclei
• immunological blood-testis barrier (BTB) appears to be slightly impaired as antibodies against testicular antigens are occasionally present
• however, no major changes in BTB integrity are detected in a biotin diffusion assay




Genotype
MGI:5004870
hm2
Allelic
Composition
Kpna6Gt(AJ0609)Wtsi/Kpna6Gt(AJ0609)Wtsi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kpna6Gt(AJ0609)Wtsi mutation (0 available); any Kpna6 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system




Genotype
MGI:7310311
ht3
Allelic
Composition
Kpna6Gt(AJ0609)Wtsi/Kpna6tm1Bdr
Genetic
Background
B6N.Cg-Kpna6Gt(AJ0609)Wtsi Kpna6tm1Bdr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kpna6Gt(AJ0609)Wtsi mutation (0 available); any Kpna6 mutation (44 available)
Kpna6tm1Bdr mutation (0 available); any Kpna6 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• male compound heterozygotes which express only the truncated KPNA6 protein in Sertoli cells and truncated plus full-length KPNA6 in developing sperm are fertile
• compound heterozygotes exhibit an epididymal sperm count that is significantly lower than that in wild-type males and comparable to that in Kpna6Gt(AJ0609)Wtsi homozygous males, confirming that absence of full-length KPNA6 in Sertoli cells is responsible for the partial reduction in sperm count
• however, compound heterozygotes show a significant increase in epididymal sperm count relative to Kpna6tm1Bdr homozygous males, suggesting that full-length KPNA6 in developing sperm can partially rescue the oligozoospermia

cellular
• compound heterozygotes exhibit an epididymal sperm count that is significantly lower than that in wild-type males and comparable to that in Kpna6Gt(AJ0609)Wtsi homozygous males, confirming that absence of full-length KPNA6 in Sertoli cells is responsible for the partial reduction in sperm count
• however, compound heterozygotes show a significant increase in epididymal sperm count relative to Kpna6tm1Bdr homozygous males, suggesting that full-length KPNA6 in developing sperm can partially rescue the oligozoospermia





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory