Phenotypes Associated with This Genotype

Genotype
MGI:3032976

• Allelic Composition: Nherf1^tm1Ssl/Nherf1^tm1Ssl
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:78606 )

• surviving females died 30 to 35 days after birth, often exhibiting bone fractures

prenatal lethality, incomplete penetrance ( J:78606 )

• homozygous females were not obtained in generations F1 to F3, but were obtained in generations F4 to F6

behavior/neurological

abnormal locomotor behavior ( J:78606 )

• female mice exhibited impaired mobility consistent with muscle weakness

homeostasis/metabolism

increased urine phosphate level ( J:78606 )

renal/urinary system

increased urine phosphate level ( J:78606 )

reproductive system

decreased litter size ( J:78606 )

• crosses involving homozygous females yielded small litters

skeleton

decreased bone mineral content ( J:78606 )

• mineral content reduced 40%

decreased bone mineral density ( J:78606 )

• bone mineral density reduced 25% to 30%

nervous system

hydrocephaly ( J:78606 )

• observed in some female mice