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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scmh1tm1Hko
targeted mutation 1, Haruhiko Koseki
MGI:3706668
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Scmh1tm1Hko/Scmh1tm1Hko involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3707449
cx2
Phc2tm1Hko/Phc2tm1Hko
Scmh1tm1Hko/Scmh1tm1Hko
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3707450
cx3
Phc2tm1Hko/Phc2+
Scmh1tm1Hko/Scmh1tm1Hko
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3707451


Genotype
MGI:3707449
hm1
Allelic
Composition
Scmh1tm1Hko/Scmh1tm1Hko
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scmh1tm1Hko mutation (0 available); any Scmh1 mutation (102 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• mono- or multinucleated large cells are sometimes seen
• at P35, about 2/3 of mice display abnormal testes morphology of variable severity
• in some cases, mice have a reduction in the number of spermatocytes and lack spermatids and mature spermatozoa in the seminiferous tubules
• mono- or multinucleated large cells are sometimes seen
• however, sertoli cells and spermatogonia are morphologically and numerically normal
• at P15, degenerating pachytene stage spermatocytes, increased numbers of apoptotic cells, and vacuoles in the luminal region are seen
• some mice have a reduction in the number of spermatocytes
• starting at P15 apoptosis progressively removes post-mitotic spermatocytes during the first wave of spermatogenesis
• the frequency of early pachytene spermatocytes is 66% compared to 37% in wild-type
• spermatocytes are incompletely depleted by late pachytene when chromatin remodeling takes place
• however, chromosome pairing and synapses of homologous chromosomes is normal
• in some cases mice lack spermatids and mature spermatozoa in the seminiferous tubules
• block in spermatogenesis during the pachytene stage with abnormal chromatin modifications of the XY body
• about half of the males are sterile

skeleton
• 5% of mice have detachment of the seventh rib from the sternum
• 49% of mice have an additional rib on C7
• 10% of mice have C1 to C2 fusions
• variable posterior transformations are observed
• 13% of mice have posterior transformations involving the sacroiliac joint
• an ectopic bone in the craniodorsal region of C1 or ectopic arch associated with the occipital bone is seen in 5% of mice
• posterior transformation of C7 in 49% of mice

endocrine/exocrine glands
• at P35, about 2/3 of mice display abnormal testes morphology of variable severity
• in some cases, mice have a reduction in the number of spermatocytes and lack spermatids and mature spermatozoa in the seminiferous tubules
• mono- or multinucleated large cells are sometimes seen
• however, sertoli cells and spermatogonia are morphologically and numerically normal
• at P15, degenerating pachytene stage spermatocytes, increased numbers of apoptotic cells, and vacuoles in the luminal region are seen

cellular
• in some cases mice lack spermatids and mature spermatozoa in the seminiferous tubules
• mono- or multinucleated large cells are sometimes seen
• block in spermatogenesis during the pachytene stage with abnormal chromatin modifications of the XY body
• MEFs enter senescence earlier compared to wild-type cells




Genotype
MGI:3707450
cx2
Allelic
Composition
Phc2tm1Hko/Phc2tm1Hko
Scmh1tm1Hko/Scmh1tm1Hko
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation (1 available); any Phc2 mutation (83 available)
Scmh1tm1Hko mutation (0 available); any Scmh1 mutation (102 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• spermatogenic defects seen in Scmh1tm1Hko homozygotes are alleviated
• male fertility is restored and testes morphology is normal




Genotype
MGI:3707451
cx3
Allelic
Composition
Phc2tm1Hko/Phc2+
Scmh1tm1Hko/Scmh1tm1Hko
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation (1 available); any Phc2 mutation (83 available)
Scmh1tm1Hko mutation (0 available); any Scmh1 mutation (102 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• spermatogenic defects seen in Scmh1tm1Hko homozygotes are alleviated, though to a lesser extent than in the double homozygotes





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