Phenotypes associated with this allele

• Allele Symbol: Slc39a4^tm1Gka
• Allele Name: targeted mutation 1, Glen K Andrews
• Allele ID: MGI:3759070
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc39a4^tm1Gka/Slc39a4^tm1Gka	involves: 129S1/Sv * C57BL/6 * FVB/N	MGI:3759075
ht2	Slc39a4^tm1Gka/Slc39a4^+	involves: 129S1/Sv * C57BL/6 * FVB/N	MGI:3759076

Genotype
MGI:3759075

hm1

• Allelic Composition: Slc39a4^tm1Gka/Slc39a4^tm1Gka
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:125096 )

• while implantation sites were present at E9, at E10 only residual masses of embryonic cells remain

• excess maternal zinc does not rescue lethality

Genotype
MGI:3759076

ht2

• Allelic Composition: Slc39a4^tm1Gka/Slc39a4⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N

mortality/aging

postnatal lethality, incomplete penetrance ( J:125096 )

• fewer than expected pups survive to weaning

• however, maternal feeding of excess zinc protected the development of heterozygotes, but not homozygotes, with the expected ratio of mice surviving to weaning and only 1 mouse displaying the abnormal eye phenotype

embryonic lethality during organogenesis, incomplete penetrance ( J:125096 )

• at E14, mice of heterozygous mothers mated to wild-type males and fed a zinc-deficient diet during pregnangy are severely underrepresented (50% of embryos are lost by E14)

• however, wild-type females mated to heterozygous males do not exhibit embryonic lethality on a zinc-deficient diet during pregnancy

growth/size/body

embryonic growth retardation ( J:125096 )

• at E10

decreased embryo size ( J:125096 )

• at E10

abnormal head morphology ( J:125096 )

• mice have domed heads

decreased body size ( J:125096 )

• mice are smaller at weaning

• 18% of mice from a wild-type female mated to a heterozygous male and fed a zinc-deficient diet during pregnancy display defects and fail to thrive

embryo

abnormal embryo development ( J:125096 )

• embryos exhibit abnormal morphology at E10 reminiscent of the teratology of maternal zinc deficiency

• 40% of post-implantation embryos are abnormal

• two thirds of embryos from mothers fed a zinc-deficient diet during pregnancy are morphologically abnormal compared to only 4.7% of wild-type embryos

embryonic growth retardation ( J:125096 )

• at E10

decreased embryo size ( J:125096 )

• at E10

cardiovascular system

thick interventricular septum ( J:125096 )

• mice display thickened ventricle septa

abnormal heart left ventricle morphology ( J:125096 )

• the wall of the left ventricle is thickened

nervous system

hydrocephaly ( J:125096 )

• three mice examined exhibited varying degrees of hydrocephaly

exencephaly ( J:125096 )

• some embryos recovered at mid-gestation exhibit exencephaly

• 4 mice of mothers fed a zinc-deficient diet during pregnancy exhibited exencephaly at E14

craniofacial

abnormal craniofacial development ( J:125096 )

• at E10

vision/eye

anophthalmia ( J:125096 )

• three mice examined lacked one or both eyes

• one mouse raised under excess zinc conditions exhibited the abnormal eye phenotype

• 7 of 8 mice of heterozygous female mice mated to wild-type male and fed a zinc-deficient diet during pregnancy have one or no eyes

skeleton

abnormal skeleton morphology ( J:125096 )

• mice exhibit skeletal abnormalities

cellular

maternal effect ( J:125096 )

• at E14, mice of heterozygous mothers mated to wild-type males and fed a zinc-deficient diet during pregnany are severely underrepresented (50% of embryos are lost by E14)

• 40% of post-implantation embryos of heterozygous female mice mated to wild-type male and fed a zinc-deficient diet during pregnancy are abnormal

• however, wild-type females mated to heterozygous males do not exhibit embryonic lethality on a zinc-deficient diet during pregnancy