Phenotypes Associated with This Genotype

Genotype
MGI:3699215

• Allelic Composition: Sall1^tm1Ryn/Sall1^tm1Ryn
• Genetic Background: involves: 129S/SvEv * C57BL/6N

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

mortality/aging

neonatal lethality, complete penetrance ( J:71242 )

• all die within 24 hours after birth

embryo

increased metanephric mesenchyme apoptosis ( J:71242 )

• metanephric mesenchyme shows increased apoptosis at E11.5

renal/urinary system

renal tubular necrosis ( J:71242 )

• remnant kidneys show necrotic proximal tubules

kidney cyst ( J:71242 )

• remnant kidneys have multiple cysts

abnormal kidney cortex morphology ( J:71242 )

• remnant kidneys show a disorganized cortical structure

abnormal metanephric mesenchyme morphology ( J:71242 )

• metanephric mesenchyme forms, however it is reduced in size and is not invaded by the ureteric bud

increased metanephric mesenchyme apoptosis ( J:71242 )

• metanephric mesenchyme shows increased apoptosis at E11.5

small kidney ( J:71242 )

• 39.3% have two small remnant kidneys

renal glomerulus atrophy ( J:71242 )

• remnant kidneys show shrunken glomeruli

abnormal proximal convoluted tubule morphology ( J:71242 )

• remnant kidneys show necrotic proximal tubules

absent kidney ( J:71242 )

• 32.1% have no kidneys or ureters

single kidney ( J:71242 )

• 28.6% exhibit unilateral kidney agenesis and hypoplasia on the other side

absent ureter ( J:71242 )

• 32.1% have no kidneys or ureters

impaired branching involved in ureteric bud morphogenesis ( J:71242 )

• E11.5 kidney rudiments cultured in vitro form no or only small numbers of branched structures compared to the development of a fully branched kidney structure in controls

abnormal ureteric bud invasion ( J:71242 )

• the ureteric bud forms but fails to invade the metanephric mesenchyme

nervous system

abnormal olfactory bulb morphology ( J:71242 )

• the layer structure of olfactory bulbs in newborns is slightly disorganized

• however, do not exhibit any other ear abnormalities

behavior/neurological

abnormal suckling behavior ( J:71242 )

• do not suckle

limbs/digits/tail

limbs/digits/tail phenotype ( J:71242 )

N • no limb deformities

cellular

increased metanephric mesenchyme apoptosis ( J:71242 )

• metanephric mesenchyme shows increased apoptosis at E11.5

renal tubular necrosis ( J:71242 )

• remnant kidneys show necrotic proximal tubules

growth/size/body

kidney cyst ( J:71242 )

• remnant kidneys have multiple cysts