About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2677456
Allelic
Composition
Sall1tm1Mrau/Sall1+
Genetic
Background
involves: 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sall1tm1Mrau mutation (0 available); any Sall1 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 5% of heterozygotes die at 3-6 weeks of age of a lethal gastrointestinal phenotype (bowel obstruction)

renal/urinary system
• >25% of heterozygotes exhibit cystic kidneys
• >25% of heterozygotes display renal hypoplasia
• isolated renal hypoplasia without cystic changes is noted in both adult and embryonic heterozygotes
• some heterozygotes show dilated renal tubules

limbs/digits/tail
• the hamate fails to adopt its characteristic triangular shape to extend to the distal side of the 5th metacarpal
• 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
• heterozygotes display elevated ABR thresholds at high-frequencies
• a few heterozygotes exhibit a mild conductive deficit
• heterozygotes exhibit high-frequency sensorineural hearing loss

skeleton
• the hamate fails to adopt its characteristic triangular shape to extend to the distal side of the 5th metacarpal
• 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
• 5% of heterozygotes exhibit a lethal bowel obstruction at 3-6 weeks of age

growth/size/body
• >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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory