Phenotypes Associated with This Genotype

Genotype
MGI:2677456

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

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

mortality/aging

premature death ( J:85458 )

• 5% of heterozygotes die at 3-6 weeks of age of a lethal gastrointestinal phenotype (bowel obstruction)

renal/urinary system

kidney cyst ( J:85458 )

• >25% of heterozygotes exhibit cystic kidneys

abnormal kidney development ( J:85458 )

small kidney ( J:85458 )

renal hypoplasia ( J:85458 )

• >25% of heterozygotes display renal hypoplasia

• isolated renal hypoplasia without cystic changes is noted in both adult and embryonic heterozygotes

dilated renal tubule ( J:85458 )

• some heterozygotes show dilated renal tubules

limbs/digits/tail

abnormal carpal bone morphology ( J:85458 )

• the hamate fails to adopt its characteristic triangular shape to extend to the distal side of the 5th metacarpal

absent triquetrum ( J:85458 )

• all adult heterozygotes show complete absence of the triquetral bone in the wrist; as a result, the underlying pisiform is fully visible from the dorsal aspect

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:85458 )

• heterozygotes display elevated ABR thresholds at high-frequencies

conductive hearing loss ( J:85458 )

• a few heterozygotes exhibit a mild conductive deficit

deafness ( J:85458 )

• heterozygotes exhibit high-frequency sensorineural hearing loss

skeleton

abnormal carpal bone morphology ( J:85458 )

• the hamate fails to adopt its characteristic triangular shape to extend to the distal side of the 5th metacarpal

absent triquetrum ( J:85458 )

• all adult heterozygotes show complete absence of the triquetral bone in the wrist; as a result, the underlying pisiform is fully visible from the dorsal aspect

digestive/alimentary system

intestinal obstruction ( J:85458 )

• 5% of heterozygotes exhibit a lethal bowel obstruction at 3-6 weeks of age

growth/size/body

kidney cyst ( J:85458 )

• >25% of heterozygotes exhibit cystic kidneys

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