Phenotypes associated with this allele

• Allele Symbol: Prkci^tm1Kido
• Allele Name: targeted mutation 1, Yoshiaki Kido
• Allele ID: MGI:3526850
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Prkci^tm1Kido/Prkci^tm1Kido Tg(Ins2-cre)25Mgn/0	involves: 129/Sv * C57BL/6 * DBA/2	MGI:3527979
cn2	Prkci^tm1Kido/Prkci^tm1.1Kido Tg(Nphs1-cre)33Mska/0	involves: C57BL/6 * C57BL/6N * DBA/2	MGI:5295616
cn3	Prkci^tm1Kido/Prkci^tm1.1Kido Tg(Cryaa-cre)10Mlr/?	involves: FVB/N	MGI:4417871
cn4	Prkci^tm1Kido/Prkci^tm1Kido Tg(Cryaa-cre)10Mlr/?	involves: FVB/N	MGI:4417872
cn5	Prkci^tm1Kido/Prkci^tm1Kido Tg(Crx-cre)1Tfur/0	Not Specified	MGI:3609222

Genotype
MGI:3527979

cn1

• Allelic Composition: Prkci^tm1Kido/Prkci^tm1Kido; Tg(Ins2-cre)25Mgn/0
• Genetic Background: involves: 129/Sv * C57BL/6 * DBA/2

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

endocrine/exocrine glands

abnormal pancreas secretion ( J:95378 )

• islet insulin secretion is increased at low glucose concentrations (3-fold at 2.8 mM glucose) but decreased at high glucose concentrations (about 50% less at 16.8 mM) compared to control

• alpha and beta cell area are normal as is the total insulin content of the islets

homeostasis/metabolism

decreased circulating glucose level ( J:95378 )

• at 6 months, but not at 2 months, blood glucose concentrations are decreased in fasting mutants expressing cre compared to those without the cre transgene

impaired glucose tolerance ( J:95378 )

• on a normal or high fat diet blood glucose concentration 60 minutes after the glucose load is significantly higher and insulin response to glucose is impaired; however, insulin tolerance is not impaired

Genotype
MGI:5295616

cn2

• Allelic Composition: Prkci^tm1Kido/Prkci^tm1.1Kido; Tg(Nphs1-cre)33Mska/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * DBA/2

Focal segmental glomerulosclerosis in Prkci^tm1Kido/Prkci^tm1.1Kido Tg(Nphs1-cre)33Mska/0 mice

mortality/aging

premature death ( J:144995 )

• mice exhibit a reduced lifespan with a median age of death of 6 weeks

growth/size/body

postnatal growth retardation ( J:144995 )

• mice exhibit growth retardation by 4 weeks of age

renal/urinary system

detached podocyte ( J:144995 )

• partial detachment of podocytes with an irregular pattern of nephrin staining is seen at P10

increased urine protein level ( J:144995 )

• mice exhibit massive proteinuria at P0 and throughout their lives

• however, kidneys appear grossly normal at P0

abnormal podocyte morphology ( J:144995 )

fused podocyte foot processes ( J:144995 )

• at P10, irregular adhesions between foot processes are observed

podocyte foot process effacement ( J:144995 )

• at P10, effacement of foot processes is observed

• however, fine foot processes are noted at P0

abnormal podocyte polarity ( J:144995 )

• at P7-P10, the apico-basal cell polarity of podocytes is disturbed

• at P7, podocalyxin loses its apically restricted localization, whereas ZO-1 localizes at the irregular cell-cell junctions of podocytes

abnormal podocyte slit junction morphology ( J:144995 )

• at P10, irregular adhesions between foot processes do not form tight junctions

abnormal podocyte slit diaphragm morphology ( J:144995 )

• at P7-P10, apically dislocated slit diaphragms are observed

• however, normal slit diaphragms are noted at P0

decreased podocyte number ( J:144995 )

• loss of podocytes is noted by P21

abnormal renal glomerulus morphology ( J:144995 )

• at P10, glomeruli display partial detachment of podocytes, occasional adhesion of glomeruli to Bowman's capsules, mesangial expansion, dilated capillaries, and an irregular pattern of nephrin staining

dilated glomerular capillary ( J:144995 )

• at P10, glomerular capillaries are dilated

expanded mesangial matrix ( J:144995 )

• at P10

glomerulosclerosis ( J:144995 )

• by P21, glomeruli exhibit advanced segmental to global sclerotic lesions, consistent with severe renal dysfunction

renal glomerular synechia ( J:144995 )

• at P10, occasional adhesion of glomeruli to Bowman's capsules is observed

abnormal proximal convoluted tubule morphology ( J:144995 )

• at P0, PAS staining indicates occasional hyaline droplets, representing reabsorbed urinary protein, in proximal renal tubules

renal cast ( J:144995 )

• at P0, PAS staining indicates occasional hyaline droplets, representing reabsorbed urinary protein, in proximal renal tubules

homeostasis/metabolism

increased circulating creatinine level ( J:144995 )

• mice display a significantly increased serum creatinine level by 3 weeks of age

increased blood urea nitrogen level ( J:144995 )

• mice display a significantly increased blood urea nitrogen level by 3 weeks of age

increased urine protein level ( J:144995 )

• mice exhibit massive proteinuria at P0 and throughout their lives

• however, kidneys appear grossly normal at P0

cardiovascular system

dilated glomerular capillary ( J:144995 )

• at P10, glomerular capillaries are dilated

cellular

detached podocyte ( J:144995 )

• partial detachment of podocytes with an irregular pattern of nephrin staining is seen at P10

Genotype
MGI:4417871

cn3

• Allelic Composition: Prkci^tm1Kido/Prkci^tm1.1Kido; Tg(Cryaa-cre)10Mlr/?
• Genetic Background: involves: FVB/N

vision/eye

abnormal anterior eye segment morphology ( J:154910 )

abnormal iris morphology ( J:154910 )

abnormal iris pigment epithelium ( J:154910 )

• pigment cells cover the surface of the lens

pupil opacity ( J:154910 )

• small opaque pupils speckled with black material

small pupil ( J:154910 )

abnormal lens morphology ( J:154910 )

• lenses are still normal at E10.5

• lens vesicle closes normally at E11.5

abnormal lens epithelium morphology ( J:154910 )

• lens epithelium layer thinner at E18.5 than for controls

• reduced cell proliferation in germinative zone of the lens epithelium

• increased expression of alpha smooth muscle actin in lens epithelia after E16.5

disorganized secondary lens fibers ( J:154910 )

• fiber cell alignment severely disrupted at E18.5

• youngest lens fiber cells have lost apical connections

• interface between lens epithelial cells and fiber cells is much shorter at E12.5

microphthalmia ( J:154910 )

• small almond shaped eyes

• smaller eyeball

pigmentation

abnormal iris pigment epithelium ( J:154910 )

• pigment cells cover the surface of the lens

Genotype
MGI:4417872

cn4

• Allelic Composition: Prkci^tm1Kido/Prkci^tm1Kido; Tg(Cryaa-cre)10Mlr/?
• Genetic Background: involves: FVB/N

vision/eye

abnormal anterior eye segment morphology ( J:154910 )

abnormal iris morphology ( J:154910 )

abnormal iris pigment epithelium ( J:154910 )

• pigment cells cover the surface of the lens

pupil opacity ( J:154910 )

• small opaque pupils speckled with black material

small pupil ( J:154910 )

abnormal lens morphology ( J:154910 )

• lenses are still normal at E10.5

• lens vesicle closes normally at E11.5

abnormal lens epithelium morphology ( J:154910 )

• lens epithelium layer thinner at E18.5 than for controls

• reduced cell proliferation in germinative zone of the lens epithelium

• increased expression of alpha smooth muscle actin in lens epithelia after E16.5

disorganized secondary lens fibers ( J:154910 )

• fiber cell alignment severely disrupted at E18.5

• youngest lens fiber cells have lost apical connections

• interface between lens epithelial cells and fiber cells is much shorter at E12.5

microphthalmia ( J:154910 )

• small almond shaped eyes

• smaller eyeball

pigmentation

abnormal iris pigment epithelium ( J:154910 )

• pigment cells cover the surface of the lens

Genotype
MGI:3609222

cn5

• Allelic Composition: Prkci^tm1Kido/Prkci^tm1Kido; Tg(Crx-cre)1Tfur/0
• Genetic Background: Not Specified

vision/eye

microphthalmia ( J:102364 )

• mild microphthalmia

abnormal retina morphology ( J:102364 )

• severe laminar disorganization of the entire retina with all types of cells, including mitotic progenitors and S-phase progenitors, randomly distributed

• apical junctions are not observed at the retinal apical edge nor around scattered photoreceptors indicating that adherens junction formation between the immature photoreceptors and the progenitors is lost

abnormal retina photoreceptor morphology ( J:102364 )

• photoreceptors are randomly distributed in the retina, indicating loss of photoreceptor polarity

• outer segment, inner segment, or synaptic terminal structures are absent although components of the outer segment, such as rhodopsin and S-opsin, and synaptic ribbons are detected

absent photoreceptor inner segment ( J:102364 )

• absent although components such as are rhodopsin and S-opsin are detected

absent photoreceptor outer segment ( J:102364 )

• absent outer segment

nervous system

hydrocephaly ( J:102364 )

abnormal retina photoreceptor morphology ( J:102364 )

• photoreceptors are randomly distributed in the retina, indicating loss of photoreceptor polarity

• outer segment, inner segment, or synaptic terminal structures are absent although components of the outer segment, such as rhodopsin and S-opsin, and synaptic ribbons are detected

absent photoreceptor inner segment ( J:102364 )

• absent although components such as are rhodopsin and S-opsin are detected

absent photoreceptor outer segment ( J:102364 )

• absent outer segment