Phenotypes associated with this allele

• Allele Symbol: Itpa^tm1.1Yun
• Allele Name: targeted mutation 1.1, Yusaku Nakabeppu
• Allele ID: MGI:6305063
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Itpa^tm1.1Yun/Itpa^tm1.1Yun Tg(Nes-cre)1Kln/0	involves: C57BL/6J * C57BL/6N * C57BL/6NJ	MGI:8448850
cn2	Guk1^em1(IMPC)J/Guk1^+ Itpa^tm1.1Yun/Itpa^tm1.1Yun Tg(Nes-cre)1Kln/0	involves: C57BL/6J * C57BL/6N * C57BL/6NJ	MGI:8448855
cx3	Guk1^em1(IMPC)J/Guk1^+ Itpa^tm1.1Yun/Itpa^+	involves: C57BL/6J * C57BL/6N * C57BL/6NJ	MGI:8448856
cx4	Guk1^em1(IMPC)J/Guk1^+ Itpa^tm1.1Yun/Itpa^tm1.1Yun	involves: C57BL/6J * C57BL/6N * C57BL/6NJ	MGI:8448857

Genotype
MGI:8448850

cn1

• Allelic Composition: Itpa^tm1.1Yun/Itpa^tm1.1Yun; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:392870 )

• all mice die within approximately 3 weeks of birth, with a median survival period of 21 days

growth/size/body

decreased body weight ( J:392870 )

• mice exhibit a reduction in body weight at P17

postnatal growth retardation ( J:392870 )

nervous system

abnormal cerebral cortex morphology ( J:392870 )

• Western blotting shows that inosine triphosphate pyrophosphatase (ITPA) protein is nearly absent in the cerebral cortex at P17-P18

homeostasis/metabolism

decreased protein level ( J:392870 )

• Western blotting shows that inosine triphosphate pyrophosphatase (ITPA) protein is nearly absent in the cerebral cortex at P17-P18; any residual ITPA signal is believed to originate from microglia and vascular cells, which are not derived from neural stem cells

Genotype
MGI:8448855

cn2

• Allelic Composition: Guk1^em1(IMPC)J/Guk1⁺; Itpa^tm1.1Yun/Itpa^tm1.1Yun; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NJ

mortality/aging

extended life span ( J:392870 )

• mice exhibit a significant increase in lifespan relative to Itpa^tm1.1Yun/Itpa^tm1.1Yun Tg(Nes-cre)1Kln/0 mice, showing a median survival period of 25 days versus 21 days, respectively

nervous system

abnormal cerebral cortex morphology ( J:392870 )

• at P17 and P18, the median inosine content per 10⁶ guanosine in RNA extracted from the cerebral cortex is reduced to 66% of that in Itpa^tm1.1Yun/Itpa^tm1.1Yun Tg(Nes-cre)1Kln/0 mice, suggesting that reduced expression of GUK1 probably leads to decreased inosine triphosphate (ITP) biosynthesis

growth/size/body

decreased body weight ( J:392870 )

• at P17, mice show no significant difference in body weight relative to Itpa^tm1.1Yun/Itpa^tm1.1Yun Tg(Nes-cre)1Kln/0 mice, suggesting that low body weight is not significantly restored by Guk1 haploinsufficiency

Genotype
MGI:8448856

cx3

• Allelic Composition: Guk1^em1(IMPC)J/Guk1⁺; Itpa^tm1.1Yun/Itpa⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NJ

growth/size/body

decreased body weight ( J:392870 )

• at P14, mice exhibit a significantly lower body weight than control mice only heterozygous for the Itpa^tm1.1Yun allele

Genotype
MGI:8448857

cx4

• Allelic Composition: Guk1^em1(IMPC)J/Guk1⁺; Itpa^tm1.1Yun/Itpa^tm1.1Yun
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NJ

growth/size/body

decreased body weight ( J:392870 )

• at P14, mice exhibit a significantly lower body weight than control mice only homozygous for the Itpa^tm1.1Yun allele