Phenotypes associated with this allele

• Allele Symbol: Slc7a7^em1Lbu
• Allele Name: endonuclease-mediated mutation 1, Lindsay Burrage
• Allele ID: MGI:6391169
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc7a7^em1Lbu/Slc7a7^em1Lbu	C57BL/6-Slc7a7^em1Lbu	MGI:7380584
hm2	Slc7a7^em1Lbu/Slc7a7^em1Lbu	involves: 129/SvEv * C57BL/6	MGI:7380585
hm3	Slc7a7^em1Lbu/Slc7a7^em1Lbu	involves: C57BL/6 * FVB/N	MGI:7380586

Genotype
MGI:7380584

hm1

• Allelic Composition: Slc7a7^em1Lbu/Slc7a7^em1Lbu
• Genetic Background: C57BL/6-Slc7a7^em1Lbu

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

mortality/aging

preweaning lethality, complete penetrance ( J:293773 )

• no homozygous mice are found at P21

• Background Sensitivity: survival is improved when mice are on a mixed C57BL/6 and 129/SvEv background

Genotype
MGI:7380585

hm2

• Allelic Composition: Slc7a7^em1Lbu/Slc7a7^em1Lbu
• Genetic Background: involves: 129/SvEv * C57BL/6

mortality/aging

preweaning lethality, incomplete penetrance ( J:293773 )

• fewer than expected at P21

• Background Sensitivity: survival is improved compared to mice on an inbred C57BL/6 background

hematopoietic system

increased neutrophil cell number ( J:293773 )

• 94% increase in the percentage of neutrophils

decreased lymphocyte cell number ( J:293773 )

• 23% decrease in the percentage of lymphocytes

increased spleen red pulp amount ( J:293773 )

• expansion of red pulp

decreased spleen weight ( J:293773 )

abnormal spleen germinal center morphology ( J:293773 )

• decreased germinal center formation

skeleton

abnormal skeleton development ( J:293773 )

• delayed skeletal development

• at P14-P18 architecture of the L4 vertebrae resemble the architecture of L4 vertebrae in wild-type controls at P5 and P10

decreased bone mineralization ( J:293773 )

• at P14-P18

growth/size/body

slow postnatal weight gain ( J:293773 )

• postnatal growth failure is seen

respiratory system

abnormal lung development ( J:293773 )

• delayed lung development

impaired lung alveolus development ( J:293773 )

liver/biliary system

delayed hepatic development ( J:293773 )

• increase in large hematopoietic aggregates suggesting delayed development

renal/urinary system

aminoaciduria ( J:293773 )

• increased urinary excretion of Arg, Lys, and Orn

argininuria ( J:293773 )

lysinuria ( J:293773 )

kidney cortex atrophy ( J:293773 )

• overall loss of the renal cortex and cortical tubular atrophy

delayed kidney development ( J:293773 )

• immature glomeruli containing podocytes with cuboidal morphology and greater Bowmans space

abnormal proximal convoluted tubule morphology ( J:293773 )

• vacuoles in the proximal tubules containing lipid

dilated renal tubule ( J:293773 )

• tubular dilation in the cortex and medulla

homeostasis/metabolism

aminoaciduria ( J:293773 )

• increased urinary excretion of Arg, Lys, and Orn

argininuria ( J:293773 )

lysinuria ( J:293773 )

immune system

increased neutrophil cell number ( J:293773 )

• 94% increase in the percentage of neutrophils

decreased lymphocyte cell number ( J:293773 )

• 23% decrease in the percentage of lymphocytes

increased spleen red pulp amount ( J:293773 )

• expansion of red pulp

decreased spleen weight ( J:293773 )

abnormal spleen germinal center morphology ( J:293773 )

• decreased germinal center formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lysinuric protein intolerance		DOID:0060439	OMIM:222700	J:293773

Genotype
MGI:7380586

hm3

• Allelic Composition: Slc7a7^em1Lbu/Slc7a7^em1Lbu
• Genetic Background: involves: C57BL/6 * FVB/N

mortality/aging

preweaning lethality, complete penetrance ( J:293773 )

• no homozygous mice are found at P21