Phenotypes Associated with This Genotype

Genotype
MGI:2677455

• Allelic Composition: Sall1^tm1Mrau/Sall1^tm1Mrau
• Genetic Background: involves: 129X1/SvJ * ICR

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:85458 )

• 50% of homozygotes die prior to E14

prenatal lethality, complete penetrance ( J:85458 )

• no live homozygous mutant pups are born

renal/urinary system

absent kidney ( J:85458 )

• at E14-E16, all (100%) surviving homozygotes exhibit renal agenesis

nervous system

exencephaly ( J:85458 )

• at E14-E16, 38% of surviving homozygotes exhibit exencephaly

limbs/digits/tail

absent carpal bone ( J:85458 )

• at E16, homozygotes show absence of several wrist bones

oligodactyly ( J:85458 )

• at E14-E16, 57% of surviving homozygotes display limb defects including syndactlyly (fusion of digits 2 and 3) or oligodactyly (absent first digit), affecting one or more limbs

syndactyly ( J:85458 )

• at E14-E16, 57% of surviving homozygotes display limb defects including syndactlyly (fusion of digits 2 and 3) or oligodactyly (absent first digit), affecting one or more limbs

fused metacarpal bones ( J:85458 )

• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones

metacarpal bone hypoplasia ( J:85458 )

• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones

digestive/alimentary system

anal atresia ( J:85458 )

• at E14-E16, >50% of surviving homozygotes display an imperforate anus

• the ano-rectal region fuses with the urethra to form a common lumen for the urogenital and digestive systems

skeleton

absent carpal bone ( J:85458 )

• at E16, homozygotes show absence of several wrist bones

fused metacarpal bones ( J:85458 )

• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones

metacarpal bone hypoplasia ( J:85458 )

• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Townes-Brocks syndrome		DOID:0050887	OMIM:107480	J:85458