Phenotypes associated with this allele

• Allele Symbol: Fbln7^tm1.1Hiya
• Allele Name: targeted mutation 1.1, Hiromi Yanagisawa
• Allele ID: MGI:6360596
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbln7^tm1.1Hiya/Fbln7^tm1.1Hiya	involves: 129S6/SvEvTac * C57BL/6	MGI:6360597

Genotype
MGI:6360597

hm1

• Allelic Composition: Fbln7^tm1.1Hiya/Fbln7^tm1.1Hiya
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

renal/urinary system

renal/urinary system phenotype ( J:271278 )

N • mice fed a normal control diet (ND) show normal kidney morphology and intact elastic fibers in the muscular arteries of the kidney

N • urine volume is normal in both ND and high phosphate (HP) diet conditions

renal interstitial fibrosis ( J:271278 )

• following an HP diet for 4 weeks, mice maintain normal kidney morphology with a significantly lower fibrosis score than HP-fed wild-type controls

• however, no fibrotic changes are observed on a normal control diet (ND)

nephrocalcinosis ( J:271278 )

• following an HP diet for 4 weeks, mice exhibit significantly less and smaller calcified lesions within the lumen of renal tubules than HP-fed wild-type controls

• however, no renal calcification is observed on a normal control diet (ND)

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:271278 )

N • mice exhibit normal serum concentrations of calcium, phosphate, albumin, glucose, 24h urinary calcium and 24h urinary phosphate levels relative to wild-type controls in both ND and HP conditions

decreased circulating creatinine level ( J:271278 )

• mice exhibit significantly lower serum creatinine levels than wild-type controls in both ND and HP conditions

• however, HP-induced 24-h creatinine clearance and 24h urinary protein levels are similar to those in HP-fed wild-type controls

increased blood urea nitrogen level ( J:271278 )

• following an HP diet for 4 weeks, mice exhibit significantly higher serum BUN levels than HP-fed wild-type controls

• however, serum BUN levels are normal on a normal control diet (ND)

cellular

abnormal cell physiology ( J:271278 )

• in vitro, isolated primary kidney cells show consistently reduced binding to artificial calcium phosphate particles (aCPP) relative to wild-type kidney cells

• binding between aCPP to mutant kidney cells without heparin is comparable to binding between aCPP to wild-type cells in the presence of heparin, indicating that Fbln7 deletion is as effective as heparin administration on aCPP binding

cardiovascular system

cardiovascular system phenotype ( J:271278 )

N • mice fed a normal control diet (ND) exhibit normal elastic fibers in the aorta; no tortuous aortas or cardiovascular defects are observed and cardiac function is normal at 3 months of age

respiratory system

respiratory system phenotype ( J:271278 )

N • no emphysema is observed

integument

integument phenotype ( J:271278 )

N • no loose skin is observed

behavior/neurological

behavior/neurological phenotype ( J:271278 )

N • mice exhibit normal food and water intake in in both ND and HP conditions