Phenotypes associated with this allele

• Allele Symbol: Gcsh^em1(IMPC)H
• Allele Name: endonuclease-mediated mutation 1, Harwell
• Allele ID: MGI:6153793
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gcsh^em1(IMPC)H/Gcsh^em1(IMPC)H	C57BL/6N-Gcsh^em1(IMPC)H/H	MGI:6262508
hm2	Gcsh^em1(IMPC)H/Gcsh^em1(IMPC)H	C57BL/6NTac-Gcsh^em1(IMPC)H/H	MGI:6508681
ht3	Gcsh^em1(IMPC)H/Gcsh^+	C57BL/6N-Gcsh^em1(IMPC)H/H	MGI:6262507
ht4	Gcsh^em1(IMPC)H/Gcsh^+	C57BL/6NTac-Gcsh^em1(IMPC)H/H	MGI:6508679
cx5	Gcsh^em1(IMPC)H/Gcsh^+ Gldc^Gt(EUCG0001d02)Hmgu/Gldc^Gt(EUCG0001d02)Hmgu	involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac	MGI:6508682

Genotype
MGI:6262508

hm1

• Allelic Composition: Gcsh^em1(IMPC)H/Gcsh^em1(IMPC)H
• Genetic Background: C57BL/6N-Gcsh^em1(IMPC)H/H

Data Sources

IMPC Data for Gcsh

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

mortality/aging

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - HAR

preweaning lethality, complete penetrance ( J:211773 )

IMPC - HAR

Genotype
MGI:6508681

hm2

• Allelic Composition: Gcsh^em1(IMPC)H/Gcsh^em1(IMPC)H
• Genetic Background: C57BL/6NTac-Gcsh^em1(IMPC)H/H

mortality/aging

embryonic lethality between implantation and placentation, incomplete penetrance ( J:302097 )

• homozygotes die prior to E8.5; only 7 of 48 (15%) embryos contained within an intact yolk sac but with no recognizable embryonic features (head-folds or somites) are genotyped as homozygotes at E8.5

• only 2 of 20 (10%) homozygous embryos, consisting of morphologically undefined tissue masses with no visible somites, are identified at E10.5, along with a high resorption rate

• following maternal formate supplementation, frequency of resorption is similar to that observed in untreated embryos

preweaning lethality, complete penetrance ( J:302097 )

• no homozygous mutant pups are recovered among offspring of heterozygous matings

embryo

embryonic growth arrest ( J:302097 )

• untreated embryos fail to develop beyond early post-implantation stages

• following maternal formate supplementation, 3 of 10 embryos progress to a slightly later stage, with evidence of head folds and 1-2 somites; however, these embryos appear retarded by at least 24-30 hours at E9.5 and show no further progression at E10.5

decreased embryo size ( J:302097 )

• untreated embryos appear significantly smaller and underdeveloped at E8.5; a subset of embryos are also smaller at E7.5

• most formate-supplemented embryos resemble untreated embryos, being considerably smaller than controls

abnormal embryonic tissue morphology ( J:302097 )

• untreated embryos show no recognizable morphological structures at E8.5

• most formate-supplemented embryos resemble untreated embryos with apparent cessation of morphological development

absent neural folds ( J:302097 )

• untreated embryos have no visible cranial neural folds at E8.5

• following maternal formate supplementation, 1 of 7 embryos at E9.5 had headfolds but no somites

absent somites ( J:302097 )

• untreated embryos have no visible somites at E8.5

• following maternal formate supplementation, 1 of 7 embryos at E9.5 had 2 somites (versus 15 somites in wild-type controls) while another embryo had headfolds but no somites; similarly, 1 of 3 formate-supplemented embryos at E10.5 had 1 visible somite (versus 29 or more in wild-type controls)

growth/size/body

decreased embryo size ( J:302097 )

• untreated embryos appear significantly smaller and underdeveloped at E8.5; a subset of embryos are also smaller at E7.5

• most formate-supplemented embryos resemble untreated embryos, being considerably smaller than controls

Genotype
MGI:6262507

ht3

• Allelic Composition: Gcsh^em1(IMPC)H/Gcsh⁺
• Genetic Background: C57BL/6N-Gcsh^em1(IMPC)H/H

Data Sources

IMPC Data for Gcsh

hematopoietic system

increased basophil cell number ( J:211773 )

IMPC - HAR

increased mean corpuscular hemoglobin ( J:211773 )

♂

IMPC - HAR

increased mean corpuscular volume ( J:211773 )

♂

IMPC - HAR

immune system

increased basophil cell number ( J:211773 )

IMPC - HAR

Genotype
MGI:6508679

ht4

• Allelic Composition: Gcsh^em1(IMPC)H/Gcsh⁺
• Genetic Background: C57BL/6NTac-Gcsh^em1(IMPC)H/H

normal phenotype

no abnormal phenotype detected ( J:302097 )

• heterozygotes are viable, fertile, overtly normal and show normal plasma glycine levels

Genotype
MGI:6508682

cx5

• Allelic Composition: Gcsh^em1(IMPC)H/Gcsh⁺; Gldc^{Gt(EUCG0001d02)Hmgu}/Gldc^{Gt(EUCG0001d02)Hmgu}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac
• Cell Lines: EUCG0001d02

embryo

abnormal neural tube morphology ( J:302097 )

• only 50% of embryos exhibit neural tube defects versus 83% of embryos that are only homozygous for the Gldc^{Gt(EUCG0001d02)Hmgu} allele (non-significant difference), suggesting that the frequency of NTDs is not significantly modified by heterozygosity for the Gcsh^em1(IMPC)H allele

nervous system

abnormal neural tube morphology ( J:302097 )

• only 50% of embryos exhibit neural tube defects versus 83% of embryos that are only homozygous for the Gldc^{Gt(EUCG0001d02)Hmgu} allele (non-significant difference), suggesting that the frequency of NTDs is not significantly modified by heterozygosity for the Gcsh^em1(IMPC)H allele