Phenotypes associated with this allele

• Allele Symbol: Yes1^tm1Sor
• Allele Name: targeted mutation 1, Philippe Soriano
• Allele ID: MGI:1857269
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Yes1^tm1Sor/Yes1^tm1Sor	either: 129S7/SvEvBrd-Yes1^tm1Sor or (involves: 129S7/SvEvBrd * C57BL/6)	MGI:2174811
cx2	Fyn^tm1Sor/Fyn^tm1Sor Yes1^tm1Sor/Yes1^tm1Sor	involves: 129S7/SvEvBrd	MGI:3574820
cx3	Src^tm1Sor/Src^tm1Sor Yes1^tm1Sor/Yes1^tm1Sor	involves: 129S7/SvEvBrd	MGI:3795907

Genotype
MGI:2174811

hm1

• Allelic Composition: Yes1^tm1Sor/Yes1^tm1Sor
• Genetic Background: either: 129S7/SvEvBrd-Yes1^tm1Sor or (involves: 129S7/SvEvBrd * C57BL/6)

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

normal phenotype

no abnormal phenotype detected ( J:20346 )

• no overt phenotype was observed; mice are viable and fertile with no apparent abnormalities in all tissues examined

• in particular, no abnormalities in T cell physiology were observed

Genotype
MGI:3574820

cx2

• Allelic Composition: Fyn^tm1Sor/Fyn^tm1Sor; Yes1^tm1Sor/Yes1^tm1Sor
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

postnatal lethality, incomplete penetrance ( J:20346 )

• incomplete penetrance; only 35% of animals survived to weaning age; normal Mendelian ratios were present at E18.5

growth/size/body

decreased body size ( J:20346 )

• animals were described as smaller at weaning age

weight loss ( J:20346 )

• at 3-5 months of age, surviving animals began to lose weight

enlarged spleen ( J:20346 )

• due to prominent myeloid hyperplasia and expansion of the white pulp

hematopoietic system

enlarged spleen ( J:20346 )

• due to prominent myeloid hyperplasia and expansion of the white pulp

myeloid hyperplasia ( J:20346 )

extramedullary hematopoiesis ( J:20346 )

increased spleen white pulp amount ( J:20346 )

• expansion of the white pulp

homeostasis/metabolism

increased urine protein level ( J:20346 )

• greater than 100mg/dl with presence of leukocytes and erythrocytes in the urine

immune system

enlarged spleen ( J:20346 )

• due to prominent myeloid hyperplasia and expansion of the white pulp

myeloid hyperplasia ( J:20346 )

increased spleen white pulp amount ( J:20346 )

• expansion of the white pulp

renal/urinary system

increased urine protein level ( J:20346 )

• greater than 100mg/dl with presence of leukocytes and erythrocytes in the urine

abnormal kidney morphology ( J:20346 )

• pale with pitted surface

abnormal renal glomerulus morphology ( J:20346 )

• expanded mesangial matrix with paramesangial deposits

• diffuse mesangial hypercellularity in focal glomeruli

cortical renal glomerulopathies ( J:20346 )

• evident at 5 weeks of age

glomerulosclerosis ( J:20346 )

• segmental glomerulosclerosis

small kidney ( J:20346 )

• described as shrunken

abnormal renal tubule morphology ( J:20346 )

• renal interstitium displayed tubal ectasia and chronic inflammatory cell infiltrate with IgG, IgM, IgA and complement C3 deposits in the mesangium, but no evidence of autoimmune disease was observed

nervous system

abnormal hippocampus morphology ( J:20346 )

• undulations of the CA3 region; no more severe than in homozygous Fyn mutant mice

abnormal dentate gyrus morphology ( J:20346 )

• undulations; no more severe than in homozygous Fyn mutant mice

integument

ruffled hair ( J:20346 )

• observed at 3-5 months of age

Genotype
MGI:3795907

cx3

• Allelic Composition: Src^tm1Sor/Src^tm1Sor; Yes1^tm1Sor/Yes1^tm1Sor
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

premature death ( J:20346 )

• some animals survived past weaning age; one survived to one year of age on a soft food diet

neonatal lethality, incomplete penetrance ( J:20346 )

• incomplete penetrance; only 10% of animals survived to weaning age; normal Mendelian ratios were present at E18.5, but many were found dead shortly after birth

growth/size/body

decreased body size ( J:20346 )

• embryos at E18.5 were approximately 25% smaller than controls despite normal placenta morphology

respiratory system

abnormal breathing pattern ( J:20346 )

• animals delivered by Cesarean at E18.5 only started to breathe normally after one hour of prodding

skeleton

osteopetrosis ( J:20346 )

• no more severe than in homozygous Src mutant mice