Phenotypes associated with this allele

• Allele Symbol: Ppp3r1^tm2.1Grc
• Allele Name: targeted mutation 2.1, Gerald R Crabtree
• Allele ID: MGI:3044031
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppp3r1^tm2.1Grc/Ppp3r1^tm2.1Grc	Not Specified	MGI:3044039
cn2	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Pax3-cre)1Joe/0	involves: 129S6/SvEvTac	MGI:3044107
cn3	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Lck-cre)1Cwi/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3044044

Genotype
MGI:3044039

hm1

• Allelic Composition: Ppp3r1^tm2.1Grc/Ppp3r1^tm2.1Grc
• Genetic Background: Not Specified

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:89771 )

• mice died at E11 due to defects in vascular patterning

• phenotype is stated to be identical to that of Ppp3r1^tm2.1Grc homozygotes; however no data is presented in J:89771

embryo

decreased embryo size ( J:89771 )

abnormal extraembryonic tissue morphology ( J:89771 )

• phenotype is stated to be identical to that of Ppp3r1^tm2.1Grc homozygotes; however no data is presented in J:89771

absent vitelline blood vessels ( J:89771 )

abnormal visceral yolk sac morphology ( J:89771 )

disorganized yolk sac vascular plexus ( J:89771 )

growth/size/body

decreased embryo size ( J:89771 )

cardiovascular system

abnormal blood vessel morphology ( J:89771 )

• phenotype is stated to be identical to that of Ppp3r1^tm2.1Grc homozygotes; however no data is presented in J:89771

abnormal angiogenesis ( J:89771 )

absent vitelline blood vessels ( J:89771 )

disorganized yolk sac vascular plexus ( J:89771 )

abnormal heart morphology ( J:89771 )

• phenotype is stated to be identical to that of Ppp3r1^tm2.1Grc homozygotes; however no data is presented in J:89771

distended pericardium ( J:89771 )

Genotype
MGI:3044107

cn2

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

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

Genotype
MGI:3044044

cn3

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

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