Phenotypes associated with this allele

• Allele Symbol: Sall4^tm1Ryn
• Allele Name: targeted mutation 1, Ryuichi Nishinakamura
• Allele ID: MGI:3699175
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sall4^tm1Ryn/Sall4^tm1Ryn	involves: 129P2/OlaHsd * C57BL/6J	MGI:3699199
ht2	Sall4^tm1Ryn/Sall4^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3699203

Genotype
MGI:3699199

hm1

• Allelic Composition: Sall4^tm1Ryn/Sall4^tm1Ryn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:118119 )

• do not survive beyond E6.5

embryo

decreased inner cell mass proliferation ( J:118119 )

• cultured blastocysts show reduced outgrowth of the inner cell mass and a reduction in cell proliferation

• even in the absence of the trophectoderm, inner cell mass growth is reduced

abnormal embryonic epiblast morphology ( J:118119 )

• 26.9% of embryos at E5.5-6.5 barely retain a structure that resembles the epiblast

cellular

decreased inner cell mass proliferation ( J:118119 )

• cultured blastocysts show reduced outgrowth of the inner cell mass and a reduction in cell proliferation

• even in the absence of the trophectoderm, inner cell mass growth is reduced

Genotype
MGI:3699203

ht2

• Allelic Composition: Sall4^tm1Ryn/Sall4⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

premature death ( J:118119 )

• 8 of 73 die between 3 and 6 weeks of age

postnatal lethality, incomplete penetrance ( J:118119 )

• 13 of 86 are runted and die or are eaten by their mothers within the first 3 weeks

prenatal lethality, incomplete penetrance ( J:118119 )

• approximately half die in utero

digestive/alimentary system

abnormal anus morphology ( J:118119 )

• 6 of the mutants that die between 3-6 weeks of age have anal stenosis

megacolon ( J:118119 )

• 6 of the mutants that die between 3-6 weeks of age have dilated bowels

abnormal rectum morphology ( J:118119 )

• 28.6% of E17.5-18.5 heterozygotes exhibit anorectal malformations

cardiovascular system

ventricular septal defect ( J:118119 )

• 20% of E17.5-18.5 fetuses exhibit ventricular septum defects

nervous system

exencephaly ( J:118119 )

• 3 of 26 show exencephaly at E11.5-15.5

limbs/digits/tail

limbs/digits/tail phenotype ( J:118119 )

N • heterozygotes surviving beyond 3 weeks have normal extremities (digits, metacarpals or metatarsals)

kinked tail ( J:118119 )

• 4 of 73 heterozygotes that survive up to 3 weeks exhibit a kinked tail

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:118119 )

N • heterozygotes surviving beyond 3 weeks show normal inner ear structures at E17.5

vision/eye

vision/eye phenotype ( J:118119 )

N • heterozygotes surviving beyond 3 weeks exhibit properly formed abducens nuclei, oculomotor and trochlear nuclei, and eye and ocular muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duane-radial ray syndrome		DOID:0060747	OMIM:607323	J:118119