Phenotypes Associated with This Genotype

Genotype
MGI:3846577

• Allelic Composition: Fat4^tm1.1Hmc/Fat4^tm1.1Hmc
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:138247 )

• die at birth or immediately after birth

renal/urinary system

kidney cyst ( J:138247 )

• cystic dilations of the tubules and some Bowman's capsules

• cysts are visible by E16 and become more severe with age

• cysts appear to be the result of defective elongation of the tubules

• some large cysts have reduced cilia

abnormal kidney collecting duct morphology ( J:138247 )

• shorter and broader compared to controls

• fail to form extended tubular structures

abnormal kidney development ( J:138247 )

• tight control of oriented cell division is impaired in developing tubules

small kidney ( J:138247 )

abnormal renal tubule morphology ( J:138247 )

• generalized loss of elongated tubules at P0

• shorter and broader compared to controls

hearing/vestibular/ear

abnormal cochlea morphology ( J:138247 )

• shorter and broader compared to controls

abnormal orientation of cochlear hair cell stereociliary bundles ( J:138247 )

• subtle but distinct defects in hair cell orientation at all levels of the cochlea

growth/size/body

decreased birth body size ( J:138247 )

• runted at birth

kidney cyst ( J:138247 )

• cystic dilations of the tubules and some Bowman's capsules

• cysts are visible by E16 and become more severe with age

• cysts appear to be the result of defective elongation of the tubules

• some large cysts have reduced cilia

limbs/digits/tail

curly tail ( J:138247 )

nervous system

abnormal neural tube morphology ( J:138247 )

• broader compared to controls

abnormal orientation of cochlear hair cell stereociliary bundles ( J:138247 )

• subtle but distinct defects in hair cell orientation at all levels of the cochlea

skeleton

kyphosis ( J:138247 )

• curved body axis at birth

embryo

abnormal neural tube morphology ( J:138247 )

• broader compared to controls