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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Enkurtm1Hmf
targeted mutation 1, Harvey M Florman
MGI:6156078
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Enkurtm1Hmf/Enkurtm1Hmf involves: 129 * C57BL/6J MGI:6156090


Genotype
MGI:6156090
hm1
Allelic
Composition
Enkurtm1Hmf/Enkurtm1Hmf
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enkurtm1Hmf mutation (0 available); any Enkur mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• in some mice
• in some mice, with misorientation of the heart, right-sided stomach or spleen, asplenia, left-sided liver, and abnormal hepatic lobulation
• in some mice

liver/biliary system
• left-sided in some mice
• abnormal lobulation

cardiovascular system
• in some mice

digestive/alimentary system
• in some mice

hematopoietic system
• right-sided in some mice
• in some mice

immune system
• right-sided in some mice
• in some mice

reproductive system
N
• females are fertile with no differences in litter rate or size relative to wild-type controls
• males show no differences in testis weight, cauda epididymal sperm count, sperm morphology (flagellum length and gross axonemal morphology) relative to wild-type controls
• males sire an average litter size of 1.1 +/- 3.6 pups/litter versus 6.8 +/- 1.6 pups/litter in wild-type controls
• when mated with wild-type females, males produce litters in only 20% of matings, with a significantly lower average litter size than wild-type controls
• however, frequency of copulatory plugs is normal
• in vitro, the capacity of cauda epididymal sperm to fertilize wild-type oocytes is reduced by ~85%
• after addition of 1 mM Ca2+, less than 15% of Triton X-100 extracted (demembranated) sperm flagella show a Ca2+-dependent coiled structure, whereas >90% of demembranated flagella from wild-type sperm adopt a highly coiled anti-hook form
• after natural mating, significantly fewer sperm are able to enter the oviduct and progress to the site of fertilization relative to wild-type male controls
• when extruded from epididymides into culture medium, sperm fail to rapidly disperse and do not produce a uniform suspension, unlike wild-type sperm
• when sperm heads are attached to a glass surface, sperm emerging from the cauda epididymis show a nonprogressive motility and a waveform in which the primary bend has a larger amplitude than in wild-type sperm and is highly asymmetric, consisting only of repetitive pro-hook bends that initiate at the head-flagellum junction
• this asymmetric flagellar bending pattern does not propagate to the distal flagellum tip and does not change upon prolonged incubation in a capacitating medium
• after release from the cauda epididymis into culture medium, sperm swim in a nonprogressive tumbling or circular pattern, unlike wild-type sperm which swim along approximately linear paths
• kinematic analysis showed that LIN (an assessment of linearity of cell motion) is significantly lower than in wild-type sperm
• however, curvilinear velocity (VCL) and lateral head displacement (AHL) are normal

cellular
• after natural mating, significantly fewer sperm are able to enter the oviduct and progress to the site of fertilization relative to wild-type male controls
• when extruded from epididymides into culture medium, sperm fail to rapidly disperse and do not produce a uniform suspension, unlike wild-type sperm
• when sperm heads are attached to a glass surface, sperm emerging from the cauda epididymis show a nonprogressive motility and a waveform in which the primary bend has a larger amplitude than in wild-type sperm and is highly asymmetric, consisting only of repetitive pro-hook bends that initiate at the head-flagellum junction
• this asymmetric flagellar bending pattern does not propagate to the distal flagellum tip and does not change upon prolonged incubation in a capacitating medium
• after release from the cauda epididymis into culture medium, sperm swim in a nonprogressive tumbling or circular pattern, unlike wild-type sperm which swim along approximately linear paths
• kinematic analysis showed that LIN (an assessment of linearity of cell motion) is significantly lower than in wild-type sperm
• however, curvilinear velocity (VCL) and lateral head displacement (AHL) are normal

behavior/neurological
N
• males show normal mating behavior relative to wild-type controls





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