Phenotypes associated with this allele

• Allele Symbol: Itga3^tm1Jak
• Allele Name: targeted mutation 1, Jordan A Kreidberg
• Allele ID: MGI:1857792
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itga3^tm1Jak/Itga3^tm1Jak	involves: 129S4/SvJae * C57BL/6J	MGI:2180464
cx2	Itga3^tm1Jak/Itga3^tm1Jak Itga6^tm1Egl/Itga6^tm1Egl	involves: 129S2/SvPas * 129S4/SvJae	MGI:2169730
cx3	Itga3^tm1Jak/Itga3^+ Itga5^tm1Hyn/Itga5^+ Itga8^tm1Lfr/Itga8^+	involves: 129S2/SvPas * 129S4/SvJae * 129X1/SvJ * C57BL/6J	MGI:3583667
cx4	Itga3^tm1Jak/Itga3^+ Itga8^tm1Lfr/Itga8^+	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6J	MGI:3583665

Genotype
MGI:2180464

hm1

• Allelic Composition: Itga3^tm1Jak/Itga3^tm1Jak
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:36831 )

• mice become progressively weak and dehydrated and die within 24 hours of birth

renal/urinary system

decreased glomerular capillary number ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

dilated glomerular capillary ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

kidney cyst ( J:36831 )

• microcystic changes such as thin epithelial walls and dilated lumina are seen in a subset of proximal tubules

abnormal kidney collecting duct morphology ( J:36831 )

• the packing of collecting ducts is not as tight as in wild-type and a stromal component is seen in the papilla

decreased kidney collecting duct number ( J:36831 )

• number of cortical collecting ducts appears decreased

• a 2-fold reduction in the number of medullary collecting ducts is seen

• however, nephron numbers are similar to wild-type

abnormal podocyte morphology ( J:36831 )

• increased loss of podocyte lateral cell junctions during capillary loop formation

absent podocyte foot process ( J:36831 )

• foot process formation is absent and podocyte cell bodies are mainly found in the periphery of the glomeruli

abnormal renal glomerulus basement membrane morphology ( J:36831 )

• glomerular basement membranes are disorganized and widened and in some areas fusion of the basement membranes produced by the podocyte and underlying endothelial cells fails to occur

increased renal glomerulus basement membrane thickness ( J:36831 )

• glomerular basement membranes are widened

small kidney ( J:36831 )

• slightly smaller kidney

abnormal distal convoluted tubule morphology ( J:36831 )

• distal tubules are decreased in length

abnormal proximal convoluted tubule morphology ( J:36831 )

• proximal tubules are decreased in length

• two subsets of abnormal proximal tubules are seen, one contains abundant cytoplasmic lysosomes and vacuoles and the second displays microcystic changes such as thin epithelial walls and dilated lumina

respiratory system

impaired branching involved in bronchus morphogenesis ( J:36831 )

• the number of branches arising from the mainstem bronchi is decreased, and large bronchi extend to the periphery

• however, alveolar formation is normal

abnormal bronchiole epithelium morphology ( J:36831 )

• most bronchiolar epithelial cells appear immature with a cuboidal morphology unlike the flattened morphology of wild-type cells

cardiovascular system

decreased glomerular capillary number ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

dilated glomerular capillary ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

homeostasis/metabolism

dehydration ( J:36831 )

• mice become progressively dehydrated prior to death

growth/size/body

kidney cyst ( J:36831 )

• microcystic changes such as thin epithelial walls and dilated lumina are seen in a subset of proximal tubules

Genotype
MGI:2169730

cx2

• Allelic Composition: Itga3^tm1Jak/Itga3^tm1Jak; Itga6^tm1Egl/Itga6^tm1Egl
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:56564 )

• expected numbers survive through E16.5, but display multiple abnormalities

growth/size/body

fetal growth retardation ( J:56564 )

• growth retarded by E16.5

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:56564 )

• barely detectable at E10.5 and E11.5

• composed of a greater than normal number of smaller and less columnar cells

• decreased cell proliferation

• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane

abnormal autopod morphology ( J:56564 )

• carpal/metacarpal and tarsal/metatarsal abnormalities seen

oligodactyly ( J:56564 )

• occasional loss or atrophy of digits

syndactyly ( J:56564 )

• no apoptosis in interdigital area of limbs at E13.5 but seen between digits 1 and 2 and between digits 4 and 5

• close apposition or fusion of chondrogenic elements of digits 2, 3 , and 4 at E13.5 (distal phalanges) and E16.5 (phalanges 1 and 2)

abnormal digit development ( J:56564 )

• irregularly shaped fore- and hindlimb footplates at E12.5

• misshapen and lack of separation between digits apparent by E13.5

embryo

abnormal primitive urogenital sinus morphology ( J:56564 )

• the vesical portion of the primitive urogenital sinus is missing

abnormal apical ectodermal ridge morphology ( J:56564 )

• barely detectable at E10.5 and E11.5

• composed of a greater than normal number of smaller and less columnar cells

• decreased cell proliferation

• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane

abnormal Mullerian duct morphology ( J:56564 )

• caudal portions of the Mullerian ducts are absent or interrupted

abnormal Wolffian duct morphology ( J:56564 )

• caudal portions of the Wolffian ducts are absent or interrupted

• in one fetus, the Wollfian duct is markedly dilated

abnormal neural tube closure ( J:56564 )

• neural tube fails to close to varying degrees in 43% of mice

nervous system

abnormal neural tube closure ( J:56564 )

• neural tube fails to close to varying degrees in 43% of mice

abnormal choroid plexus morphology ( J:56564 )

abnormal stratification in cerebral cortex ( J:56564 )

• severe disorganization of cerebral cortex

vision/eye

abnormal lens epithelium morphology ( J:56564 )

• large breaches in the anterior epithelium over the lens

disorganized retina ganglion layer ( J:56564 )

• drastically disorganized

abnormal retina nerve fiber layer morphology ( J:56564 )

• drastically disorganized

abnormal vitreous body morphology ( J:56564 )

• massive ectopias into the vitreous body

respiratory system

abnormal left lung morphology ( J:56564 )

• left lung almost absent at E15.5

impaired branching involved in terminal bronchiole morphogenesis ( J:56564 )

• terminal lung buds fewer and larger at E13.5 and E14.5

• however, branching morphogenesis is not abolished, as terminal bronchi are present at E15.5 and E16.5

impaired lung lobe morphogenesis ( J:56564 )

• at E15.5, the left lung is almost absent while the right lung is single-lobed

pulmonary hypoplasia ( J:56564 )

• bilateral lung hypoplasia

abnormal right lung morphology ( J:56564 )

• right lung with only one lobe

endocrine/exocrine glands

pancreas hypoplasia ( J:56564 )

• hypoplasia

renal/urinary system

absent ureter ( J:56564 )

• partial or complete

urethra atresia ( J:56564 )

• genital folds fail to fuse resulting in agenesis of the phallic portion of the urethra

absent urinary bladder ( J:56564 )

• urinary bladder fails to form

digestive/alimentary system

abnormal rectum morphology ( J:56564 )

• caudal portion sometimes absent

integument

abnormal epidermal layer morphology ( J:56564 )

• rupture of the surface epithelium in the distal parts of limbs by E13.5

Genotype
MGI:3583667

cx3

• Allelic Composition: Itga3^tm1Jak/Itga3⁺; Itga5^tm1Hyn/Itga5⁺; Itga8^tm1Lfr/Itga8⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * 129X1/SvJ * C57BL/6J

nervous system

reduced long-term potentiation ( J:84858 )

• nearly complete elimination of long term potentiation after 60 minutes

behavior/neurological

abnormal spatial learning ( J:84858 )

• deficient in spatial memory in a Morris water maze test

• normal fear conditioning however

Genotype
MGI:3583665

cx4

• Allelic Composition: Itga3^tm1Jak/Itga3⁺; Itga8^tm1Lfr/Itga8⁺
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6J

nervous system

reduced long-term potentiation ( J:84858 )

• increasingly severe deficient long term potentiation response shortly after tetanus