Phenotypes associated with this allele

• Allele Symbol: Mtss1^tm1Pla
• Allele Name: targeted mutation 1, Pekka Lappalainen
• Allele ID: MGI:5319219
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mtss1^tm1Pla/Mtss1^tm1Pla	Not Specified	MGI:5319220
cx2	Mtss1^tm1Pla/Mtss1^tm1Pla Ptch1^tm1Mps/Ptch1^tm1Mps	involves: 129S1/Sv * 129X1/SvJ	MGI:5319221

Genotype
MGI:5319220

hm1

• Allelic Composition: Mtss1^tm1Pla/Mtss1^tm1Pla
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:182970 )

• many mice become sick and die at around 8 to 18 months of age

renal/urinary system

increased urine magnesium level ( J:182970 )

increased renal glomerulus basement membrane thickness ( J:182970 )

glomerulosclerosis ( J:182970 )

• with lymphocyte infiltration

dilated renal tubule ( J:182970 )

kidney degeneration ( J:182970 )

renal fibrosis ( J:182970 )

• massive

polyuria ( J:182970 )

• at 8 months

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:182970 )

increased urine magnesium level ( J:182970 )

skeleton

decreased bone mineral content ( J:182970 )

• more pronounced in female mice than in male mice

behavior/neurological

increased fluid intake ( J:182970 )

• at 8 months

Genotype
MGI:5319221

cx2

• Allelic Composition: Mtss1^tm1Pla/Mtss1^tm1Pla; Ptch1^tm1Mps/Ptch1^tm1Mps
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

embryonic lethality, complete penetrance ( J:182970 )

• embryonic lethality observed in Ptch1^tm1Mps homozygotes is not rescued