Phenotypes Associated with This Genotype

Genotype
MGI:3698627

• Allelic Composition: Sall4^tm1Brd/Sall4⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

Head, kidney, and anogenital tract defects in Sall4^tm1Brd/Sall4⁺ mice

mortality/aging

postnatal lethality ( J:117866 )

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

homeostasis/metabolism

middle ear effusion ( J:117866 )

hearing/vestibular/ear

abnormal middle ear morphology ( J:117866 )

• middle ear effusion and squamous metaplasia of epithelium

middle ear effusion ( J:117866 )

impaired hearing ( J:117866 )

• progressive hearing loss

conductive hearing loss ( J:117866 )

• hearing loss may be in part conductive

• as, tympanic membrane, ossicles, cochlea, and vestibular system appear normal

ear inflammation ( J:117866 )

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

increased susceptibility to otitis media ( J:117866 )

digestive/alimentary system

anal atresia ( J:117866 )

• anogenital tract defects include imperforate anus

anovaginal fistula ( J:117866 )

♀ • anogenital tract defects include anovaginal fistula formation

persistent cloaca ( J:117866 )

• anogenital tract defects include persistent common cloaca

abnormal perineum morphology ( J:117866 )

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

skeleton

abnormal craniofacial bone morphology ( J:117866 )

• occasionally display shortening of the cranial bones

abnormal nasal bone morphology ( J:117866 )

• occasionally display lateral deviation of the nasal bones

absent triquetrum ( J:117866 )

• occasionally observe the absence of the triquetrum, one of the small carpal bones

immune system

ear inflammation ( J:117866 )

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

increased susceptibility to otitis media ( J:117866 )

limbs/digits/tail

absent triquetrum ( J:117866 )

• occasionally observe the absence of the triquetrum, one of the small carpal bones

nervous system

absent enteric neurons ( J:117866 )

• 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

exencephaly ( J:117866 )

• 4% of fetuses between E14.5 and E18.5 exhibit exencephaly

renal/urinary system

persistent cloaca ( J:117866 )

• anogenital tract defects include persistent common cloaca

renal hypoplasia ( J:117866 )

• 25% of heterozygotes between E15.5 and P4 have renal hypoplasia

single kidney ( J:117866 )

• 35% of heterozygotes between E15.5 and P4 have unilateral renal agenesis

reproductive system

anovaginal fistula ( J:117866 )

♀ • anogenital tract defects include anovaginal fistula formation

persistent cloaca ( J:117866 )

• anogenital tract defects include persistent common cloaca

abnormal perineum morphology ( J:117866 )

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

craniofacial

abnormal craniofacial bone morphology ( J:117866 )

• occasionally display shortening of the cranial bones

abnormal nasal bone morphology ( J:117866 )

• occasionally display lateral deviation of the nasal bones

behavior/neurological

abnormal pinna reflex ( J:117866 )

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

absent pinna reflex ( J:117866 )

growth/size/body

abnormal nasal bone morphology ( J:117866 )

• occasionally display lateral deviation of the nasal bones

respiratory system

abnormal nasal bone morphology ( J:117866 )

• 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