Phenotypes associated with this allele

• Allele Symbol: Tubgcp4^tm1Rzh
• Allele Name: targeted mutation 1, Rongjia Zhou
• Allele ID: MGI:7329950
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tubgcp4^tm1Rzh/Tubgcp4^tm1Rzh	involves: 129S6/SvEv * C57BL/6	MGI:7329974
ht2	Tubgcp4^tm1Rzh/Tubgcp4^+	involves: 129S6/SvEv * C57BL/6	MGI:7329976

Genotype
MGI:7329974

hm1

• Allelic Composition: Tubgcp4^tm1Rzh/Tubgcp4^tm1Rzh
• Genetic Background: involves: 129S6/SvEv * C57BL/6

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:282705 )

• number of homozygotes is decreased at E5.5 and none are seen after E7.5, indicating embryonic death in peri-implantation

embryo

embryonic growth retardation ( J:282705 )

• E6.5 embryos show developmental retardation with a short embryonic region

growth/size/body

embryonic growth retardation ( J:282705 )

• E6.5 embryos show developmental retardation with a short embryonic region

cellular

decreased cell proliferation ( J:282705 )

• E3.5 blastocysts cultured in vitro for 2 days show abnormal development and after 3 days in culture, the number of outgrowths is decreased, indicating that proliferation of embryonic cells is arrested at E6.5

Genotype
MGI:7329976

ht2

• Allelic Composition: Tubgcp4^tm1Rzh/Tubgcp4⁺
• Genetic Background: involves: 129S6/SvEv * C57BL/6

vision/eye

disorganized photoreceptor outer segment ( J:282705 )

• photoreceptors show a disorganized outer segment and disrupted lamellar structure of the outer segment

retina photoreceptor degeneration ( J:282705 )

thin retina outer nuclear layer ( J:282705 )

• 10-20% decrease in the thickness of the retinal outer nuclear layer in 6-month-old mice

• mice administered hydroxychloroquine (HCQ), an autophagy flux inhibitor, for 2 months show an increase in outer nuclear layer thickness in both the superior and inferior retina

decreased a-wave amplitude ( J:282705 )

• under scotopic conditions, a-wave amplitude is decreased

decreased b-wave amplitude ( J:282705 )

• under both scotopic and photopic conditions, b-wave amplitude is decreased

abnormal cone electrophysiology ( J:282705 )

• under scotopic conditions, the average saturated a-wave and b-wave are decreased approximately 40%

• mice administered HCQ show a significant increase in retinal function

abnormal rod electrophysiology ( J:282705 )

• under photopic conditions, ERG responses are weakened in the b-wave, decreasing approximately 50%

• mice administered HCQ show a significant increase in retinal function

growth/size/body

microcephaly ( J:282705 )

cellular

enhanced autophagy ( J:282705 )

• marker analysis indicates an upregulation of autophagy in the retina, and autophagosome formation in the photoreceptor inner segments

homeostasis/metabolism

enhanced autophagy ( J:282705 )

• marker analysis indicates an upregulation of autophagy in the retina, and autophagosome formation in the photoreceptor inner segments

nervous system

disorganized photoreceptor outer segment ( J:282705 )

• photoreceptors show a disorganized outer segment and disrupted lamellar structure of the outer segment

retina photoreceptor degeneration ( J:282705 )