Phenotypes associated with this allele

• Allele Symbol: Sall1⁺
• Allele Name: wild type
• Allele ID: MGI:2439745
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sall1^tm2Ryn/Sall1^+	involves: 129P2/OlaHsd * C57BL/6N	MGI:3699218
ht2	Sall1^tm1.1Mrau/Sall1^+	involves: 129X1/SvJ	MGI:4462423
ht3	Sall1^tm1Mrau/Sall1^+	involves: 129X1/SvJ * ICR	MGI:2677456
cx4	Sall1^tm2Ryn/Sall1^+ Sall4^tm2Ryn/Sall4^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3699211
cx5	Sall1^tm1Jkoh/Sall1^+ Sall4^Gt(W097E01)Flo/Sall4^+	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:3828112

Genotype
MGI:3699218

ht1

• Allelic Composition: Sall1^tm2Ryn/Sall1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:71242 )

• many die in the perinatal period without any apparent histological abnormalities

Genotype
MGI:4462423

ht2

• Allelic Composition: Sall1^tm1.1Mrau/Sall1⁺
• Genetic Background: involves: 129X1/SvJ

limbs/digits/tail

abnormal carpal bone morphology ( J:161758 )

• phenotype is stated to be similar to that of Sall1^tm1Mrau/Sall1⁺ heterozygotes; however, no data are provided

skeleton

abnormal carpal bone morphology ( J:161758 )

• phenotype is stated to be similar to that of Sall1^tm1Mrau/Sall1⁺ heterozygotes; however, no data are provided

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Townes-Brocks syndrome		DOID:0050887	OMIM:107480	J:161758

Genotype
MGI:2677456

ht3

• 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

Genotype
MGI:3699211

cx4

• Allelic Composition: Sall1^tm2Ryn/Sall1⁺; Sall4^tm2Ryn/Sall4⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:118119 )

• none survive after birth

renal/urinary system

absent kidney ( J:118119 )

• 6 of 38 exhibit bilateral renal agenesis

single kidney ( J:118119 )

• 10 of 38 exhibit unilateral renal agenesis

cardiovascular system

ventricular septal defect ( J:118119 )

• 70% of E17.5-18.5 mutants exhibit ventricular septum defects

digestive/alimentary system

abnormal anus morphology ( J:118119 )

• 68.8% of mutants at E17.5-18.5 exhibit anorectal malformations

anal stenosis ( J:118119 )

• exhibit anal stenosis at E17.5

abnormal rectum morphology ( J:118119 )

• 68.8% of mutants at E17.5-18.5 exhibit anorectal malformations

nervous system

exencephaly ( J:118119 )

• seen in 44.7% of E13.5-P0 mutants

Genotype
MGI:3828112

cx5

• Allelic Composition: Sall1^tm1Jkoh/Sall1⁺; Sall4^{Gt(W097E01)Flo}/Sall4⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

mortality/aging

prenatal lethality, incomplete penetrance ( J:143350 )

• only 4 of 79 offspring of heterozygous crosses were compound heterozygotes

nervous system

open neural tube ( J:143350 )

• partial penetrance of neural tube defects

embryo

open neural tube ( J:143350 )

• partial penetrance of neural tube defects