All Phenotypes Ppp3r1<tm2Grc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ppp3r1^tm2Grc
targeted mutation 2, Gerald R Crabtree
MGI:3044022

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Pax3-cre)1Joe/0	involves: 129S6/SvEvTac	MGI:3044106
cn2	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Pax3-cre)1Joe/0	involves: 129S6/SvEvTac	MGI:3044107
cn3	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(GATA5-cre)1Krc/0	involves: 129S6/SvEvTac	MGI:4366030
cn4	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Lck-cre)1Cwi/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3044044
cn5	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Lck-cre)1Cwi/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3044045
cn6	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Tagln-cre)1Her/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4366031
cn7	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4366032

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

renal interstitial fibrosis ( J:89217 )

abnormal kidney pelvis morphology ( J:89217 )

• abnormal development of the renal pelvis due to impaired mesenchymal cell proliferation in the developing urinary tract, resulting in abnormal pyeloureteral peristalsis

dilated kidney calyx ( J:89217 )

hydronephrosis ( J:89217 )

• first evident at 5 days of age and becoming more severe by 12 days of age

• in most cases the obstruction occurred at the level of the ureteropelvic junction

• associated with severe parenchymal atrophy, massive nephron loss, interstitial fibrosis, severe dilation of the tubular and pelvicaliceal space

• putatively due to abnormal the pyeloureteral peristalsis that resulted from the kidney and ureter developmental defects

kidney atrophy ( J:89217 )

• severe parenchymal atrophy and massive nephron loss

dilated renal tubule ( J:89217 )

abnormal ureter development ( J:89217 )

• abnormal development of the ureter due to impaired mesenchymal cell proliferation in the developing urinary tract, resulting in abnormal pyeloureteral peristalsis

ureteropelvic junction obstruction ( J:89217 )

• in most cases the obstruction occurred at the level of the ureteropelvic junction

kidney failure ( J:89217 )

• renal failure following progressive renal obstruction

homeostasis/metabolism

increased blood urea nitrogen level ( J:89217 )

• observed at 12 days of age and indicative of impaired renal function

cellular

decreased cell proliferation ( J:89217 )

• decreased proliferation of mesenchymal cells along the urinary tract

muscle

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2.1Grc mutation (0 available); any Ppp3r1 mutation (31 available)
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

renal interstitial fibrosis ( J:89217 )

abnormal kidney pelvis morphology ( J:89217 )

• abnormal development of the renal pelvis due to impaired mesenchymal cell proliferation in the developing urinary tract

dilated kidney calyx ( J:89217 )

hydronephrosis ( J:89217 )

• first evident at 5 days of age and becoming more severe by 12 days of age

• in most cases the obstruction occurred at the level of the ureteropelvic junction

• associated with severe parenchymal atrophy, massive nephron loss, interstitial fibrosis, severe dilation of the tubular and pelvicaliceal space

• putatively due to abnormal the pyeloureteral peristalsis that resulted from the kidney and ureter developmental defects

kidney atrophy ( J:89217 )

• severe parenchymal atrophy and massive nephron loss

dilated renal tubule ( J:89217 )

abnormal ureter development ( J:89217 )

• abnormal development of the ureter due to impaired mesenchymal cell proliferation in the developing urinary tract

ureteropelvic junction obstruction ( J:89217 )

• in most cases the obstruction occurred at the level of the ureteropelvic junction

kidney failure ( J:89217 )

• renal failure following progressive renal obstruction

homeostasis/metabolism

increased blood urea nitrogen level ( J:89217 )

• observed at 12 days of age and indicative of impaired renal function

cellular

decreased cell proliferation ( J:89217 )

• decreased proliferation of mesenchymal cells along the urinary tract

muscle

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(GATA5-cre)1Krc/0
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(GATA5-cre)1Krc mutation (0 available)

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

cardiovascular system

cardiovascular system phenotype ( J:153636 )

N	• mice are grossly normal and display no defects in endothelial patterning at E12.5; mice live to adulthood and are indistinguishable from wild-type littermates

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Lck-cre)1Cwi/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

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

hematopoietic system

abnormal positive T cell selection ( J:89771 )

• double positive (DP) thymocytes cannot progress to the single positive (SP)

• DP thymocytes show defects in induction of TCRb, CD69, and CD5 which are markers of positive selection

• negative selection was unaffected

abnormal splenic cell ratio ( J:89771 )

• decreased numbers of T lymphocytes compared to controls

immune system

abnormal positive T cell selection ( J:89771 )

• double positive (DP) thymocytes cannot progress to the single positive (SP)

• DP thymocytes show defects in induction of TCRb, CD69, and CD5 which are markers of positive selection

• negative selection was unaffected

abnormal splenic cell ratio ( J:89771 )

• decreased numbers of T lymphocytes compared to controls

abnormal lymph node cell ratio ( J:89771 )

• decreased numbers of T lymphocytes compared to controls

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:89771 )

• ERK activation is defective in Ppp3r1-deficient animals

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Lck-cre)1Cwi/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Lck-cre)1Cwi mutation (3 available)

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

hematopoietic system

thymus hypoplasia ( J:89771 )

• general decrease in cellularity is observed

decreased thymocyte number ( J:89771 )

• specific reduction in CD4+CD8- and CD4-CD8+ single positive (SP) thymocytes is found

immune system

thymus hypoplasia ( J:89771 )

• general decrease in cellularity is observed

decreased thymocyte number ( J:89771 )

• specific reduction in CD4+CD8- and CD4-CD8+ single positive (SP) thymocytes is found

endocrine/exocrine glands

thymus hypoplasia ( J:89771 )

• general decrease in cellularity is observed

decreased thymocyte number ( J:89771 )

• specific reduction in CD4+CD8- and CD4-CD8+ single positive (SP) thymocytes is found

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Tagln-cre)1Her/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Tagln-cre)1Her mutation (2 available)

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

cardiovascular system

cardiovascular system phenotype ( J:153636 )

N	• mice are grossly normal and display normal coronary endothelial patterning at E12.5; mice live to adulthood and are indistinguishable from wild-type littermates

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Tek-cre)1Ywa/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Tek-cre)1Ywa mutation (6 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:153636 )

• most embryos die at E13 due to heart valve defects

cardiovascular system

cardiovascular system phenotype ( J:153636 )

N	• peripheral vasculature is not observably different from wild-type at E10.5 and 11.5; cranial, intersomitic and dorsal vessels appear normal at E10.5 and 11.5 • at E12.5, no significant differences in endothelial cell proliferation or apoptosis are detected

abnormal vascular endothelial cell development ( J:153636 )

• coronary endothelial cells are fused and limited to the atrioventricular junction; PECAM1-positive endothelial cells are limited to basal portion of ventricles with no cells reaching the apical region of the heart

abnormal heart development ( J:153636 )

• hearts at E12.5 show limited endothelial branching compared to extensive network of endothelial tubes in wild-type

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