Phenotypes associated with this allele

• Allele Symbol: Sall1^tm1Mrau
• Allele Name: targeted mutation 1, Michael Rauchman
• Allele ID: MGI:2677452
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sall1^tm1Mrau/Sall1^tm1Mrau	involves: 129X1/SvJ * ICR	MGI:2677455
ht2	Sall1^tm1Mrau/Sall1^+	involves: 129X1/SvJ * ICR	MGI:2677456

Genotype
MGI:2677455

hm1

• 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

Genotype
MGI:2677456

ht2

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

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