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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fads2tm1Mtna
targeted mutation 1, Manabu T Nakamura
MGI:4365366
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fads2tm1Mtna/Fads2tm1Mtna involves: 129S6/SvEvTac * C57BL/6J MGI:4365376


Genotype
MGI:4365376
hm1
Allelic
Composition
Fads2tm1Mtna/Fads2tm1Mtna
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fads2tm1Mtna mutation (0 available); any Fads2 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Female Fads2tm1Mtna/Fads2tm1Mtna mice exhibit dermatitis, enlarged spleen and liver, and intestinal ulcer when fed a diet lacking delta-6 desaturase products

mortality/aging
• female mice fed a diet lacking delta-6 desaturase products at euthanized at 135 days due to weight loss unlike similarly treated wild-type mice

reproductive system
• in female mice fed a diet lacking delta-6 desaturase products
• in female mice fed a diet lacking delta-6 desaturase products
• normal spermatozoa or elongated spermatids are absent in the seminiferous tubules of mice fed a diet lacking delta-6 desaturase products unlike in similarly treated wild-type mice
• male mice fed a diet lacking delta-6 desaturase products lack mature spermatozoa unlike similarly treated wild-type mice
• under highly unsaturated fatty acids (HUFA) deficiency, manchette microtubules are present but the marginal ring appears abnormal
• under HUFA deficiency, acrosin staining shows a lack of the acrosomal cap-like structures, with staining appearing in a punctate pattern within the cytosol
• dietary supplementation with AA (arachidonic acid) results in fragmented acrosomal cap structures, whereas supplementation with DHA (docosahexaenoic acid) fully restores formation of the cap structures
• AA-supplemented mice have significantly fewer round spermatids with completely formed caps (31.8%), with most round spermatids showing a punctate-like or fragmented acrosomal cap
• 57.2% of DHA-supplemented round spermatids show an intact cap-like structure
• under HUFA deficiency, Golgi-derived proacrosomal granules are present but do not fuse to form a single acrosomal structure or bind to the nuclear membrane lamina
• failure of proacrosomal granule fusion appears to cause a minor buildup of vesicles within the Golgi toward the cis-face
• syntaxin 2 (a protein involved in vesicle fusion) remains scattered in reticular structures and shows no extensive colocalization with acrosin in round spermatids, suggesting failed fusion with acrosin-containing vesicles or failed transport and release of syntaxin 2 vesicles from Golgi
• DHA supplementation restores acrosin-syntaxin 2 colocalization in the acrosomal cap of round spermatids whereas AA supplementation is less effective
• globozoospermia is likely a secondary effect of failed acrosomal biogenesis
• under highly unsaturated fatty acids (HUFA) deficiency, no acrosome structure is detected by PAS staining in round spermatids or in later-step spermatid heads
• dietary supplementation with AA (arachidonic acid) or DHA (docosahexaenoic acid) restores positive PAS staining in round and elongated spermatids
• male mice fed a diet lacking delta-6 desaturase products exhibit impaired spermatid elongation unlike similarly treated wild-type mice
• under HUFA deficiency, spermatogenesis occurs normally up to round spermatids but elongated spermatids appear abnormal, indicating that spermiogenesis is disrupted
• spermatids show acrosome loss, abnormal nuclear indentations or nucleopodes at the acroplaxome and failed spermatid elongation
• acrosome biogenesis is halted at step 2 of spermiogenesis
• dietary supplementation with AA (arachidonic acid) or DHA (docosahexaenoic acid) restores acrosin caplike staining as well as formation of elongated spermatids
• in female mice fed a diet lacking delta-6 desaturase products
• even when mice are supplemented with highly unsaturated fatty acids

cellular
• male mice fed a diet lacking delta-6 desaturase products lack mature spermatozoa unlike similarly treated wild-type mice
• under highly unsaturated fatty acids (HUFA) deficiency, manchette microtubules are present but the marginal ring appears abnormal
• under HUFA deficiency, acrosin staining shows a lack of the acrosomal cap-like structures, with staining appearing in a punctate pattern within the cytosol
• dietary supplementation with AA (arachidonic acid) results in fragmented acrosomal cap structures, whereas supplementation with DHA (docosahexaenoic acid) fully restores formation of the cap structures
• AA-supplemented mice have significantly fewer round spermatids with completely formed caps (31.8%), with most round spermatids showing a punctate-like or fragmented acrosomal cap
• 57.2% of DHA-supplemented round spermatids show an intact cap-like structure
• under HUFA deficiency, Golgi-derived proacrosomal granules are present but do not fuse to form a single acrosomal structure or bind to the nuclear membrane lamina
• failure of proacrosomal granule fusion appears to cause a minor buildup of vesicles within the Golgi toward the cis-face
• syntaxin 2 (a protein involved in vesicle fusion) remains scattered in reticular structures and shows no extensive colocalization with acrosin in round spermatids, suggesting failed fusion with acrosin-containing vesicles or failed transport and release of syntaxin 2 vesicles from Golgi
• DHA supplementation restores acrosin-syntaxin 2 colocalization in the acrosomal cap of round spermatids whereas AA supplementation is less effective
• globozoospermia is likely a secondary effect of failed acrosomal biogenesis
• under highly unsaturated fatty acids (HUFA) deficiency, no acrosome structure is detected by PAS staining in round spermatids or in later-step spermatid heads
• dietary supplementation with AA (arachidonic acid) or DHA (docosahexaenoic acid) restores positive PAS staining in round and elongated spermatids
• male mice fed a diet lacking delta-6 desaturase products exhibit impaired spermatid elongation unlike similarly treated wild-type mice
• under HUFA deficiency, excessive endoplasmic reticulum and vesicles are present on the cis-face of the Golgi in spermatids

immune system
• female mice fed a diet lacking delta-6 desaturase products exhibit lymphocyte depletion in the thymus cortex unlike similarly treated wild-type mice
• in female mice fed a diet lacking delta-6 desaturase products
• 4 times in female mice fed a diet lacking delta-6 desaturase products
• 2.6 times in male mice fed a diet lacking delta-6 desaturase products
• in female mice fed a diet lacking delta-6 desaturase products due to erythroid and myeloid hyperplasia
• female mice fed a diet lacking delta-6 desaturase products exhibit lymphocyte depletion in the white pulp of the spleen unlike similarly treated wild-type mice
• female mice fed a diet lacking delta-6 desaturase products exhibit lymphocyte depletion in the thymus and white pulp of the spleen unlike similarly treated wild-type mice
• female and male mice fed a diet lacking delta-6 desaturase products exhibit slight skin irritation at day 120 that develop into severe ulcerative dermatitis around the face, neck, and ears unlike in similarly treated wild-type mice
• however, supplementation with archidonic acid prevents dermatitis

liver/biliary system
• 1.6 times in female mice fed a diet lacking delta-6 desaturase products
• 1.2 times in male mice fed a diet lacking delta-6 desaturase products
• in mice fed a diet lacking delta-6 desaturase products
• 2-fold in mice fed a diet lacking delta-6 desaturase products

growth/size/body
• beginning at day 110 in male mice fed a diet lacking delta-6 desaturase products
• female mice fed a diet lacking delta-6 desaturase products exhibit weight loss at day 135 necessitating euthanasia unlike similarly treated wild-type mice
• 1.3 times in female mice fed a diet lacking delta-6 desaturase products
• 1.6 times in female mice fed a diet lacking delta-6 desaturase products
• 1.2 times in male mice fed a diet lacking delta-6 desaturase products
• in mice fed a diet lacking delta-6 desaturase products
• 4 times in female mice fed a diet lacking delta-6 desaturase products
• 2.6 times in male mice fed a diet lacking delta-6 desaturase products

homeostasis/metabolism
• 2-fold in mice fed a diet lacking delta-6 desaturase products

renal/urinary system
• 1.3 times in female mice fed a diet lacking delta-6 desaturase products

digestive/alimentary system
• female mice fed a diet lacking delta-6 desaturase products develop small scattered ulcers primarily at the ileocecal junctions and sometimes in the duodenum and ileum unlike similarly treated wild-type mice
• male mice fed a diet lacking delta-6 desaturase products exhibit ulcers at the ileocecal junction and occasionally duodenum, some with inflammation extending transmurally resulting in localized peritonitis unlike in similarly treated wild-type mice
• however, supplementation with archidonic acid prevents dermatitis

behavior/neurological
• female mice fed a diet lacking delta-6 desaturase products exhibit reduced food intake presumably due to trichobezoars (hair balls from licking ulcerated skin treated with ointment) unlike similarly treated wild-type mice

hematopoietic system
• female mice fed a diet lacking delta-6 desaturase products exhibit lymphocyte depletion in the thymus cortex unlike similarly treated wild-type mice
• in female mice fed a diet lacking delta-6 desaturase products
• 4 times in female mice fed a diet lacking delta-6 desaturase products
• 2.6 times in male mice fed a diet lacking delta-6 desaturase products
• in female mice fed a diet lacking delta-6 desaturase products due to erythroid and myeloid hyperplasia
• female mice fed a diet lacking delta-6 desaturase products exhibit lymphocyte depletion in the white pulp of the spleen unlike similarly treated wild-type mice

endocrine/exocrine glands
• female mice fed a diet lacking delta-6 desaturase products exhibit lymphocyte depletion in the thymus cortex unlike similarly treated wild-type mice
• in female mice fed a diet lacking delta-6 desaturase products
• in female mice fed a diet lacking delta-6 desaturase products
• in female mice fed a diet lacking delta-6 desaturase products

integument
• female and male mice fed a diet lacking delta-6 desaturase products exhibit slight skin irritation at day 120 that develop into severe ulcerative dermatitis around the face, neck, and ears unlike in similarly treated wild-type mice
• however, supplementation with archidonic acid prevents dermatitis
• female mice fed a diet lacking delta-6 desaturase products exhibit ulcers with inflammation extending through the dermis and underlying muscle unlike similarly treated wild-type mice





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