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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ift140tm1c(KOMP)Wtsi
targeted mutation 1c, Wellcome Trust Sanger Institute
MGI:5311828
Summary 2 genotypes


Genotype
MGI:5311855
cn1
Allelic
Composition
Ift140tm1b(KOMP)Wtsi/Ift140tm1c(KOMP)Wtsi
Tg(Hoxb7-cre)13Amc/?
Genetic
Background
B6J.B6-Ift140tm1b(KOMP)Wtsi/Ift140tm1c(Komp)Wtsi Tg(Hoxb7-cre)13Amc
Cell Lines EPD0073_5_F01
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift140tm1b(KOMP)Wtsi mutation (0 available); any Ift140 mutation (71 available)
Ift140tm1c(KOMP)Wtsi mutation (0 available); any Ift140 mutation (71 available)
Tg(Hoxb7-cre)13Amc mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• either very short or no cilia are present in collecting ducts at birth
• cilia continue to be present in decreasing numbers at 10 and 20 days of age
• extensive cysts throughout the kidney by 20 days of age
• present at 10 days of age
• present at 5 and 10 days of age
• only very short cilia are assembled
• at birth
• stumpy cilia present at at 10 and 20 days of age
• cystic kidneys are fibrotic
• increased interstitial cell smooth muscle actin
• increased collagen
• at 20 days of age in non-collecting duct cells
• percentage of mitotic cells is elevated and remains high in collecting ducts
• during the third week of life

cellular
N
• normal orientation of mitotic spindles in precystic collecting ducts of the kidney
• either very short or no cilia are present in collecting ducts at birth
• cilia continue to be present in decreasing numbers at 10 and 20 days of age
• at 20 days of age in non-collecting duct cells
• percentage of mitotic cells is elevated and remains high in collecting ducts

growth/size/body
• extensive cysts throughout the kidney by 20 days of age
• present at 10 days of age
• present at 5 and 10 days of age




Genotype
MGI:6857985
cn2
Allelic
Composition
Ift140tm1c(KOMP)Wtsi/Ift140tm1c(KOMP)Wtsi
Tg(Stra8-icre)1Reb/0
Genetic
Background
involves: C57BL/6N * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift140tm1c(KOMP)Wtsi mutation (0 available); any Ift140 mutation (71 available)
Tg(Stra8-icre)1Reb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• males show normal testis size with no significant differences in testis weight and testis/body weight ratio relative to control males
• sperm count is significantly reduced; only few sperm are found in the lumen of cauda epididymis
• SEM analysis revealed epididymal sperm with amorphous heads, short/swollen flagella, uneven thickness of flagella, and other distorted shapes
• cauda epididymal sperm from 3- to 4-mo-old males display short and/or bent tails
• vacuoles are present at the base of stunted flagella
• misplaced ODFs are observed
• some sperm lack a 9 + 2 core axoneme structure
• TEM analysis revealed that the few epididymal and testicular sperm recovered show disorganized axoneme microtubule array
• some sperm display a swollen tail tip
• misplaced mitochondria components are observed
• misplaced fibrous sheath components are observed
• amorphous sperm heads are observed
• some sperm show disorganized chromatin structure
• in round spermatids, IFT20 protein does not appear to attach as tightly to the nuclear membrane as in control spermatids
• IFT27 protein appears to form a large vesicle, not observed in control round spermatids
• although IFT88 protein is still present in the cytoplasm of spermatocytes and round spermatids, it is absent from the manchette of elongating spermatids and shows abnormal accumulation in the cells at later stages
• a small % of sperm exhibit low beating amplitude with limited forward movement; curvilinear velocity is largely reduced
• less than 10% of sperm remain motile; however, their motility is significantly weaker than that of control sperm
• >90% of sperm display no mobility
• step 16 spermatids are phagocytosed along the basement membrane after stage VIII
• abnormal shapes of the developing spermatid heads appear in stage X
• an excessive accumulation of cytoplasm is observed in elongating spermatids beginning in stage XII
• epididymides contain round bodies of cytoplasm derived from the sloughing of the cytoplasmic lobes and residual bodies
• failure of spermiation in stage VIII leading to a reduction of sperm numbers in the cauda epididymis
• only few sperm are detected in the lumen of seminiferous tubules
• when mated with adult wild-type females for at least 2 months, all 6-wk-old or adult males tested fail to produce offspring, indicating complete male sterility
• however, males show normal sexual behavior and vaginal plug formation
• in an in vitro fertilization assay, only 5 of 84 C57BL/6J oocytes incubated with mutant sperm progressed to the 2-cell stage; three of these appeared markedly abnormal and none progressed to the 4-cell stage

cellular
• sperm count is significantly reduced; only few sperm are found in the lumen of cauda epididymis
• SEM analysis revealed epididymal sperm with amorphous heads, short/swollen flagella, uneven thickness of flagella, and other distorted shapes
• cauda epididymal sperm from 3- to 4-mo-old males display short and/or bent tails
• vacuoles are present at the base of stunted flagella
• misplaced ODFs are observed
• TEM analysis revealed that the few epididymal and testicular sperm recovered show disorganized axoneme microtubule array
• some sperm lack a 9 + 2 core axoneme structure
• some sperm display a swollen tail tip
• misplaced mitochondria components are observed
• misplaced fibrous sheath components are observed
• amorphous sperm heads are observed
• some sperm show disorganized chromatin structure
• in round spermatids, IFT20 protein does not appear to attach as tightly to the nuclear membrane as in control spermatids
• IFT27 protein appears to form a large vesicle, not observed in control round spermatids
• although IFT88 protein is still present in the cytoplasm of spermatocytes and round spermatids, it is absent from the manchette of elongating spermatids and shows abnormal accumulation in the cells at later stages
• a small % of sperm exhibit low beating amplitude with limited forward movement; curvilinear velocity is largely reduced
• less than 10% of sperm remain motile; however, their motility is significantly weaker than that of control sperm
• >90% of sperm display no mobility





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory