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Phenotypes Associated with This Genotype
Genotype
MGI:2677455
Allelic
Composition
Sall1tm1Mrau/Sall1tm1Mrau
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
• no live homozygous mutant pups are born

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

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

limbs/digits/tail
• at E16, homozygotes show absence of several wrist bones
• 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
• 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
• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones
• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones

digestive/alimentary system
• 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
• at E16, homozygotes show absence of several wrist bones
• at E16, homozygotes display metacarpal hypoplasia or fusion of the 4th and 5th metacarpal bones
• 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


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)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory