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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Kpna2em1Alfon
endonuclease-mediated mutation 1, Alfonso Gutierez-Adan
MGI:7512791
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Kpna2em1Alfon/Kpna2em1Alfon involves: C57BL/6 * CBA MGI:7513944


Genotype
MGI:7513944
hm1
Allelic
Composition		 Kpna2em1Alfon/Kpna2em1Alfon
Genetic
Background		 involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kpna2em1Alfon mutation (0 available); any Kpna2 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:338393 )
• crosses between heterozygous females and males produces smaller litter sizes (5.8 pups vs. 7.4 pups in wild-type mice), with fewer than the expected number of homozygotes indicating loss of homozygotes during the preimplantation or fetal stage

growth/size/body
decreased body size ( J:338393 )
• both males and females are smaller

reproductive system
teratozoospermia ( J:338393 )
• about 50% of sperm show some type of abnormality, including head, neck and midpiece, and tail defects
asthenozoospermia ( J:338393 )
• sperm show lower total and progressive motility, with reduced kinetic parameters straight-line velocity (VSL), average path velocity (VAP), linearity, and straightness, indicating a reduction in linearity and straightness of spermatozoa
male infertility ( J:338393 )
• homozygous males mated with wild-type females do not produce offspring
• however, no differences in apoptotic cell rates are seen in the testis and sperm concentrations, testis weight, and sperm viability are normal
• fertilization rates and cleavage rates of sperm in response to intracytoplasmic sperm injection are similar to wild-type

cellular
teratozoospermia ( J:338393 )
• about 50% of sperm show some type of abnormality, including head, neck and midpiece, and tail defects
asthenozoospermia ( J:338393 )
• sperm show lower total and progressive motility, with reduced kinetic parameters straight-line velocity (VSL), average path velocity (VAP), linearity, and straightness, indicating a reduction in linearity and straightness of spermatozoa




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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory