About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sall4tm1Brd
targeted mutation 1, Allan Bradley
MGI:3698290
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sall4tm1Brd/Sall4tm1Brd involves: 129S7/SvEvBrd * C57BL/6J MGI:3698626
ht2
Sall4tm1Brd/Sall4+ involves: 129S7/SvEvBrd * C57BL/6J MGI:3698627


Genotype
MGI:3698626
hm1
Allelic
Composition
Sall4tm1Brd/Sall4tm1Brd
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sall4tm1Brd mutation (0 available); any Sall4 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3698627
ht2
Allelic
Composition
Sall4tm1Brd/Sall4+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sall4tm1Brd mutation (0 available); any Sall4 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Head, kidney, and anogenital tract defects in Sall4tm1Brd/Sall4+ mice

mortality/aging
• a large number of heterozygous pups do not survive to weaning (16-55% depending on the type of cross and backcross generation)

homeostasis/metabolism

hearing/vestibular/ear
• middle ear effusion and squamous metaplasia of epithelium
• progressive hearing loss
• hearing loss may be in part conductive
• as, tympanic membrane, ossicles, cochlea, and vestibular system appear normal
• 67% exhibit middle ear inflammation compared to 22% of wild-type

digestive/alimentary system
• anogenital tract defects include imperforate anus
• anogenital tract defects include anovaginal fistula formation
• anogenital tract defects include persistent common cloaca
• 9% exhibit defects of the lower anogenital tract, ranging from imperforate anus, anovaginal fistula formation, and persistent common cloaca

skeleton
• occasionally display shortening of the cranial bones
• occasionally display lateral deviation of the nasal bones
• occasionally observe the absence of the triquetrum, one of the small carpal bones

immune system
• 67% exhibit middle ear inflammation compared to 22% of wild-type

limbs/digits/tail
• occasionally observe the absence of the triquetrum, one of the small carpal bones

nervous system
• lower anogenital tract defects in 9% of heterozygotes include the formation of Hirschsprung's disease due to the absence of enteric neurons in the distal colon
• 4% of fetuses between E14.5 and E18.5 exhibit exencephaly

renal/urinary system
• anogenital tract defects include persistent common cloaca
• 25% of heterozygotes between E15.5 and P4 have renal hypoplasia
• 35% of heterozygotes between E15.5 and P4 have unilateral renal agenesis

reproductive system
• anogenital tract defects include anovaginal fistula formation
• anogenital tract defects include persistent common cloaca
• 9% exhibit defects of the lower anogenital tract, ranging from imperforate anus, anovaginal fistula formation, and persistent common cloaca

craniofacial
• occasionally display shortening of the cranial bones
• occasionally display lateral deviation of the nasal bones

behavior/neurological
• 50% show an absent or weak Preyer reflex by 12 weeks of age, with a mean age of onset of 58 days

growth/size/body
• occasionally display lateral deviation of the nasal bones

respiratory system
• occasionally display lateral deviation of the nasal bones

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duane-radial ray syndrome DOID:0060747 OMIM:607323
J:117866
otitis media DOID:10754 J:117866





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
12/10/2024
MGI 6.24
The Jackson Laboratory