Phenotypes associated with this allele

• Allele Symbol: Ugcg^tm1Rlp
• Allele Name: targeted mutation 1, Richard L Proia
• Allele ID: MGI:2180226
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ugcg^tm1Rlp/Ugcg^tm1Rlp	involves: 129S6/SvEvTac	MGI:2651491
ht2	Ugcg^tm1Rlp/Ugcg^tm2Rlp	involves: 129S6/SvEvTac	MGI:3845257
cn3	Ugcg^tm1Rlp/Ugcg^tm4Rlp Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4442809

Genotype
MGI:2651491

hm1

• Allelic Composition: Ugcg^tm1Rlp/Ugcg^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance ( J:76736 , J:80111 )

• gastrulating homozygous mutant embryos start undergoing resorption at ~E7.5 (J:76736)

• only small remnants of embryonic tissue are detected at E8.5 (J:76736)

• all mutant embryos are completely resorbed by E9.5 (J:76736)

embryo

increased ectoderm apoptosis ( J:76736 , J:80111 )

• at E7.5, homozygotes display increased ectoderm apoptosis relative to wild-type embryos (J:76736)

• however, increased apoptosis is also noted in other regions of the mutant embryos (J:76736)

decreased embryo size ( J:76736 , J:80111 )

• at E7.5, homozygous mutant embryos are smaller than wild-type embryos (J:76736)

abnormal extraembryonic tissue morphology ( J:76736 , J:80111 )

• at E7.5, homozygotes exhibit a smaller extraembryonic portion relative to the embryonic portion (J:76736)

abnormal Reichert's membrane morphology ( J:76736 )

• at E7.5, the Reichert's membrane is abnormally adhered to the decidua

disorganized extraembryonic tissue ( J:76736 )

• at E7.5, all three major cavities - exocoelom, amniotic, and ectoplacental - are present but appear disorganized and significantly smaller in size

growth/size/body

decreased embryo size ( J:76736 , J:80111 )

• at E7.5, homozygous mutant embryos are smaller than wild-type embryos (J:76736)

cellular

increased ectoderm apoptosis ( J:76736 , J:80111 )

• at E7.5, homozygotes display increased ectoderm apoptosis relative to wild-type embryos (J:76736)

• however, increased apoptosis is also noted in other regions of the mutant embryos (J:76736)

Genotype
MGI:3845257

ht2

• Allelic Composition: Ugcg^tm1Rlp/Ugcg^tm2Rlp
• Genetic Background: involves: 129S6/SvEvTac

cellular

abnormal plasma membrane morphology ( J:76736 )

• ES cells injected into subcutaneous hosts form teratomas with a 35% increase in sphingomyelin

embryo

abnormal ectoderm development ( J:76736 )

• mutant cystic bodies formed in vitro have a greater predominance of immature neuroectodermal tissue

Genotype
MGI:4442809

cn3

• Allelic Composition: Ugcg^tm1Rlp/Ugcg^tm4Rlp; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

behavior/neurological

limb grasping ( J:103415 )

• at 6 months

abnormal gait ( J:103415 )

• aged mice exhibit a labored gait unlike wild-type mice

nervous system

Purkinje cell degeneration ( J:103415 )

• severe at 9 months

• increases with age