All Phenotypes Ift20<tm1.1Gjp> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ift20^tm1.1Gjp/Ift20^tm1.1Gjp Tg(Hoxb7-cre)13Amc/0	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6	MGI:3817270
cn2	Ift20^tm1.1Gjp/Ift20^tm1.2Gjp Tg(Stra8-icre)1Reb/0	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * FVB/NJ	MGI:6865740
cn3	Ift20^tm1.1Gjp/Ift20^tm1.2Gjp Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * CBA	MGI:6383666
cn4	Ift20^tm1.1Gjp/Ift20^tm1.2Gjp Tg(OPN1LW-cre)4Yzl/0	involves: 129S7/SvEvBrd * C57BL/6J * FVB/N	MGI:6383662

Allelic Composition	Ift20^tm1.1Gjp/Ift20^tm1.1Gjp Tg(Hoxb7-cre)13Amc/0
Genetic Background	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift20^tm1.1Gjp mutation (1 available); any Ift20 mutation (21 available)
Tg(Hoxb7-cre)13Amc mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

increased kidney cell proliferation ( J:141071 )

• by P23, collecting duct cells lacking cilia show increased rates of proliferation

abnormal kidney morphology ( J:141071 )

• by P23 most of the kidney is replaced by collecting duct epithelium, fluid filled cysts, and fibrotic material

absent kidney epithelial cell primary cilium ( J:141071 )

• at E18 collecting duct epithelial cells almost completely lack cilia

kidney cyst ( J:141071 )

• cystic expansion of the collecting ducts

• cells lining cysts lack primary cilia

• cells lining cysts may be flat with prominent microvilli or domed with less pronounced microvilli

enlarged kidney ( J:141071 )

• progressive bilateral kidney enlargement beginning by P10

increased kidney weight ( J:141071 )

• by P23, kidney weight is about 10 times that of controls

abnormal kidney collecting duct epithelium morphology ( J:141071 )

• at E18 collecting duct epithelial cells almost completely lack cilia

• at P5 in non-dilated tubules, mitotic spindle orientation is randomized rather than being parallel to the long axis of the tubule

• at P5 the centrosome remains at the apical end of the cell but can be located anywhere from the lateral junction to the center of the cell rather than at the center of the cell

dilated kidney collecting duct ( J:141071 )

• dilation is first seen at P5

renal interstitial fibrosis ( J:141071 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:141071 )

• about 3 times higher than in controls

cellular

absent kidney epithelial cell primary cilium ( J:141071 )

• at E18 collecting duct epithelial cells almost completely lack cilia

increased kidney cell proliferation ( J:141071 )

• by P23, collecting duct cells lacking cilia show increased rates of proliferation

growth/size/body

kidney cyst ( J:141071 )

• cystic expansion of the collecting ducts

• cells lining cysts lack primary cilia

• cells lining cysts may be flat with prominent microvilli or domed with less pronounced microvilli

enlarged kidney ( J:141071 )

• progressive bilateral kidney enlargement beginning by P10

increased kidney weight ( J:141071 )

• by P23, kidney weight is about 10 times that of controls

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

reproductive system

reproductive system phenotype ( J:265626 )

N	• adult males exhibit no differences in testis-to-body weight ratio relative to control males

abnormal sperm motility ( J:265626 )

• only a small % of sperm are motile and show forward motility, and flagellar movement is limited to a slow, erratic waveform with a very low amplitude

asthenozoospermia ( J:265626 )

• only about 10% of epididymal sperm are motile but their motility, calculated as curvilinear velocity (VCL), is significantly reduced

immotile sperm ( J:265626 )

• only about 10% of epididymal sperm are motile versus 80% in control males

abnormal seminiferous tubule morphology ( J:265626 )

• very few flagellar axonemes or mature lysosomes are present in the seminiferous tubules; instead, cell debris, including degenerating chromatin and vacuoles are observed

abnormal spermatogenesis ( J:265626 )

• very few germ cells complete spermatogenesis

• however, testis histology revealed normal mitosis and meiosis

oligozoospermia ( J:265626 )

• cauda epididymal sperm count is severely reduced

teratozoospermia ( J:265626 )

• SEM analysis of epididymal sperm showed a variety of abnormal sperm morphologies, including short and kinked tails and round heads

abnormal sperm flagellum morphology ( J:265626 )

• some epididymal sperm with kinked tails show excess retention of cytoplasm in the kinked area

abnormal outer dense fiber morphology ( J:265626 )

• missing outer dense fibers (ODFs) are observed

abnormal sperm axoneme morphology ( J:265626 )

• abnormal axonemal structures are frequently observed in epididymal sperm, including a disrupted 9 + 2 pattern and missing outer dense fibers (ODFs) in the axoneme

kinked sperm flagellum ( J:265626 )

• many sperm tails are kinked

short sperm flagellum ( J:265626 )

• many sperm tails are shortened

globozoospermia ( J:265626 )

• some sperm display round, swollen heads

abnormal spermiogenesis ( J:265626 )

• caudal epididymis shows a very low sperm concentration, with a high frequency of sperm anomalies, sloughed round germ cells, residual bodies, sperm with short tails, and sperm tails without heads

• in testis, stage IX shows abnormal step 16 elongated spermatids that are not released into the lumen and residual bodies being sloughed into the lumen

• stages I-III show abnormal elongated spermatids along with some normal heads and cytoplasm but spermatid tails do not appear in the lumen

• stage X shows step 16 spermatid heads remaining in the seminiferous epithelium and residual bodies remaining at the lumen rather than being phagocytized

• stage XI shows abnormal elongating spermatids and sloughed residual bodies remaining from prior stages

abnormal spermiation ( J:265626 )

• stage X shows failure of spermiation with step 16 spermatid heads remaining in the seminiferous epithelium

decreased litter size ( J:265626 )

• first litter size was significantly reduced in 37.5% of the 6-wk-old males that sired pups (2 to 5 pups/litter versus 7 to 11 pups/litter for age-matched control males)

male infertility ( J:265626 )

• none of the 14 adult males tested produced any litters after 3 months of breeding with adult wild-type females of known fertility

• however, sexual behavior is normal and vaginal plugs are observed in paired females

reduced male fertility ( J:265626 )

• 6 of 16 (37.5%) of the 6-wk-old males tested were able to sire a single litter of significantly reduced size, but failed to sire pups again after the first litter

cellular

oligozoospermia ( J:265626 )

• cauda epididymal sperm count is severely reduced

teratozoospermia ( J:265626 )

• SEM analysis of epididymal sperm showed a variety of abnormal sperm morphologies, including short and kinked tails and round heads

abnormal sperm flagellum morphology ( J:265626 )

• some epididymal sperm with kinked tails show excess retention of cytoplasm in the kinked area

abnormal outer dense fiber morphology ( J:265626 )

• missing outer dense fibers (ODFs) are observed

abnormal sperm axoneme morphology ( J:265626 )

• abnormal axonemal structures are frequently observed in epididymal sperm, including a disrupted 9 + 2 pattern and missing outer dense fibers (ODFs) in the axoneme

kinked sperm flagellum ( J:265626 )

• many sperm tails are kinked

short sperm flagellum ( J:265626 )

• many sperm tails are shortened

globozoospermia ( J:265626 )

• some sperm display round, swollen heads

abnormal sperm motility ( J:265626 )

• only a small % of sperm are motile and show forward motility, and flagellar movement is limited to a slow, erratic waveform with a very low amplitude

asthenozoospermia ( J:265626 )

• only about 10% of epididymal sperm are motile but their motility, calculated as curvilinear velocity (VCL), is significantly reduced

immotile sperm ( J:265626 )

• only about 10% of epididymal sperm are motile versus 80% in control males

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:265626 )

• very few flagellar axonemes or mature lysosomes are present in the seminiferous tubules; instead, cell debris, including degenerating chromatin and vacuoles are observed

Allelic Composition	Ift20^tm1.1Gjp/Ift20^tm1.2Gjp Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift20^tm1.1Gjp mutation (1 available); any Ift20 mutation (21 available)
Ift20^tm1.2Gjp mutation (0 available); any Ift20 mutation (21 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

abnormal photoreceptor inner segment morphology ( J:183002 )

• mice treated with tamoxifen at 4 weeks of age show rhodopsin in the inner segment, cell body, and the synapse and accumulation of rhodopsin at the Golgi complex, indicating defective opsin trafficking

vision/eye

abnormal photoreceptor inner segment morphology ( J:183002 )

Allelic Composition	Ift20^tm1.1Gjp/Ift20^tm1.2Gjp Tg(OPN1LW-cre)4Yzl/0
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J * FVB/N

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

abnormal retina cone cell inner segment morphology ( J:183002 )

• mice show mislocalization of opsin in the inner segment and at the synapse such that opsin is abundant in the inner segments at P10, with dense accumulations at the basal body of the connecting cilium, suggesting a defect in cone opsin active transport through the cilium

abnormal retina cone cell outer segment morphology ( J:183002 )

• cone outer segments show reduced amounts of opsin at P10

photoreceptor outer segment degeneration ( J:183002 )

• the number of outer segments declines rapidly after P10 such that only about 10% as many as in controls are seen at P28 and none are seen at later time points

retina cone cell degeneration ( J:183002 )

• rapid degeneration after P10

vision/eye

abnormal retina cone cell inner segment morphology ( J:183002 )

abnormal retina cone cell outer segment morphology ( J:183002 )

• cone outer segments show reduced amounts of opsin at P10

photoreceptor outer segment degeneration ( J:183002 )

• the number of outer segments declines rapidly after P10 such that only about 10% as many as in controls are seen at P28 and none are seen at later time points

retina cone cell degeneration ( J:183002 )

• rapid degeneration after P10

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