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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gatad2btm1a(EUCOMM)Hmgu
targeted mutation 1a, Helmholtz Zentrum Muenchen GmbH
MGI:4434913
Summary 2 genotypes


Genotype
MGI:7580987
hm1
Allelic
Composition
Gatad2btm1a(EUCOMM)Hmgu/Gatad2btm1a(EUCOMM)Hmgu
Genetic
Background
C57BL/6N-Gatad2btm1a(EUCOMM)Hmgu
Cell Lines HEPD0554_7_E03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gatad2btm1a(EUCOMM)Hmgu mutation (1 available); any Gatad2b mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 11 out of 169 pups born from heterozygous matings are homozygotes; these mice die soon after birth with no apparent morphological defects

nervous system
• at E16.5, the proportion of radial glial cells is significantly increased in the developing cortex
• at E16.5, proportions of interneurons are consistently reduced in the developing cortex
• at P0, most callosal axons fail to reach the contralateral hemisphere
• reduced midline crossing of commissural axons is associated with an abnormal arrangement of GFAP+ guidepost glia cells and a widening of the interhemispheric fissure
• at E18.5, the proportion of cells expressing Tbr1 in layer V (co-expressing Ctip2) is significantly higher than in wild-type controls
• embryonic brains exhibit reduced cortical thickness
• at E18, brains show a virtually complete absence of GFAP expressing glia
• at E16.5, the proportion of progenitor-like cells in the subventricular zone is significantly increased in the developing cortex whereas the proportion of ganglionic eminence cells is reduced

cellular
• at E16.5, the proportion of radial glial cells is significantly increased in the developing cortex




Genotype
MGI:7580988
ht2
Allelic
Composition
Gatad2btm1a(EUCOMM)Hmgu/Gatad2b+
Genetic
Background
C57BL/6N-Gatad2btm1a(EUCOMM)Hmgu
Cell Lines HEPD0554_7_E03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gatad2btm1a(EUCOMM)Hmgu mutation (1 available); any Gatad2b mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice survive to adulthood

craniofacial
• 85% of mice exhibit increased curvature of the nasion vs 14% of wild-type controls
• mice exhibit a significantly broader snout than wild-type controls, as measured by the distance between the most lateral 3rd row of vibrissae
• however, no significant difference is observed in head width

behavior/neurological
N
• mice do NOT exhibit spontaneous seizures at any age and show normal behavior in the grip strength test and the hanging test at 1 month of age
• in a contextual fear conditioning task, mice exhibit significantly less freezing than wild-type controls in contextual testing 24 h after conditioning
• mice exhibit significantly less freezing in cued conditioning during pre-tone and tone
• mice exhibit novel environment-induced hyperactivity (total distance traveled) in the open field test
• in the Barnes maze task, 12-wk-old mice perform worse than wild-type controls at finding the target hole across the acquisition phase
• in the open field test, mice spend significantly more time exploring the periphery while avoiding the anxiety-provoking center
• dams are not good mothers; litters derived from wild-type males bred with heterozygous females are nursed by wild-type foster females

nervous system
• at E16.5, the proportion of radial glial cells is significantly increased in the developing cortex
• at E16.5, proportions of interneurons are consistently reduced in the developing cortex
• at P0, significantly less callosal axons cross the midline and the number of midline astroglia cells is decreased
• decreased midline crossing of commissural axons is associated with an abnormal arrangement of GFAP+ guidepost glia cells and a widening of the interhemispheric fissure
• embryonic brains exhibit abnormal density of layer-specific neurons in the cortex
• at E16.5, the frequency of cells co-expressing Satb2 and Ctip2 is significantly higher than in wild-type controls
• at E18.5, the proportion of cells expressing Tbr1 in layer V (co-expressing Ctip2) is significantly higher than in wild-type controls
• embryonic brains exhibit reduced cortical thickness
• at E18, all GFAP+ glia, including the glial wedge (GW), indusium griseum glia (IGG) and midline zipper glia (MZG) subtypes, are generally reduced
• at E16.5, the proportion of progenitor-like cells in the subventricular zone is significantly increased in the developing cortex whereas the proportion of ganglionic eminence cells is reduced

growth/size/body
• 85% of mice exhibit increased curvature of the nasion vs 14% of wild-type controls
• mice exhibit a significantly broader snout than wild-type controls, as measured by the distance between the most lateral 3rd row of vibrissae
• however, no significant difference is observed in head width

cellular
• at E16.5, the proportion of radial glial cells is significantly increased in the developing cortex
• abnormal epigenetic transcriptional regulation of corticogenesis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
GAND syndrome DOID:0070048 OMIM:615074
J:344365





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory