Phenotypes associated with this allele

• Allele Symbol: Guk1^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:7385089
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Guk1^em1(IMPC)J/Guk1^em1(IMPC)J	C57BL/6NJ-Guk1^em1(IMPC)J/Mmjax	MGI:7629015
ht2	Guk1^em1(IMPC)J/Guk1^+	C57BL/6NJ-Guk1^em1(IMPC)J/Mmjax	MGI:7768347
cn3	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
cx4	Guk1^em1(IMPC)J/Guk1^+ Itpa^tm1.1Yun/Itpa^+	involves: C57BL/6J * C57BL/6N * C57BL/6NJ	MGI:8448856
cx5	Guk1^em1(IMPC)J/Guk1^+ Itpa^tm1.1Yun/Itpa^tm1.1Yun	involves: C57BL/6J * C57BL/6N * C57BL/6NJ	MGI:8448857

Genotype
MGI:7629015

hm1

• Allelic Composition: Guk1^em1(IMPC)J/Guk1^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Guk1^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Guk1

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

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

prenatal lethality, complete penetrance ( J:392870 )

• no viable newborn pups are obtained from heterozygous crosses

Genotype
MGI:7768347

ht2

• Allelic Composition: Guk1^em1(IMPC)J/Guk1⁺
• Genetic Background: C57BL/6NJ-Guk1^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Guk1

behavior/neurological

increased startle reflex ( J:211773 )

♂

IMPC - JAX

hematopoietic system

decreased leukocyte cell number ( J:211773 )

♂

IMPC - JAX

immune system

decreased leukocyte cell number ( J:211773 )

♂

IMPC - JAX

Genotype
MGI:8448855

cn3

• 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

cx4

• 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

cx5

• 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