Phenotypes associated with this allele

• Allele Symbol: Tgds^em2Gtbo
• Allele Name: endonuclease-mediated mutation 2, Guido T Bommer
• Allele ID: MGI:8244798
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tgds^em1Gtbo/Tgds^em2Gtbo	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl	MGI:8244832

Genotype
MGI:8244832

ht1

• Allelic Composition: Tgds^em1Gtbo/Tgds^em2Gtbo
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl

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

skeleton

abnormal cranium size ( J:371720 )

• mild, but significant, reduction of skull length in E18.5 embryos

abnormal viscerocranium morphology ( J:371720 )

• facial skull changes are seen in mice analyzed at 5 weeks of age

short mandible ( J:371720 )

• mild reduction of mandible length in E18.5 embryos

• however, no evidence of cleft palate is seen

short nasal bone ( J:371720 )

• mild reduction of nasal bone length in E18.5 embryos

decreased length of long bones ( J:371720 )

• long bones of hindlimbs (femur, tibia, and fibula) and forelimbs (humerus, radius, and ulna) show mild, but significant, shortening in E18.5 embryos

• however, digit morphology is normal

homeostasis/metabolism

abnormal metabolism ( J:371720 )

• amount of UDP-4-keto-6-deoxyglucose is more than 80% lower in the brain, liver, and kidney and is undetectable in the heart (nucleotide sugar concentration)

• amount of UDP-6-deoxyhexose and UDP-xylose is reduced while the amount of UDP-glucuronate is increased

craniofacial

abnormal cranium size ( J:371720 )

• mild, but significant, reduction of skull length in E18.5 embryos

abnormal viscerocranium morphology ( J:371720 )

• facial skull changes are seen in mice analyzed at 5 weeks of age

short mandible ( J:371720 )

• mild reduction of mandible length in E18.5 embryos

• however, no evidence of cleft palate is seen

short nasal bone ( J:371720 )

• mild reduction of nasal bone length in E18.5 embryos

shortened head ( J:371720 )

growth/size/body

abnormal viscerocranium morphology ( J:371720 )

• facial skull changes are seen in mice analyzed at 5 weeks of age

short mandible ( J:371720 )

• mild reduction of mandible length in E18.5 embryos

• however, no evidence of cleft palate is seen

short nasal bone ( J:371720 )

• mild reduction of nasal bone length in E18.5 embryos

shortened head ( J:371720 )

respiratory system

short nasal bone ( J:371720 )

• mild reduction of nasal bone length in E18.5 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Catel Manzke syndrome		DOID:0081122	OMIM:616145	J:371720