Phenotypes Associated with This Genotype

Genotype
MGI:3831537

• Allelic Composition: Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Head defects in Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ embryos

craniofacial

abnormal craniofacial morphology ( J:143508 )

• some heterozygous mice displayed craniofacial defects

abnormal frontonasal suture morphology ( J:143508 )

• the frontonasal suture was lacking the degree of interdigitation observed in the control

small cranium ( J:143508 )

• in some heterogygous mice

absent frontal bone ( J:143508 )

• in some heterogygous mice

absent interparietal bone ( J:143508 )

• in some heterogygous mice

absent supraoccipital bone ( J:143508 )

• in some heterogygous mice

absent parietal bone ( J:143508 )

• in some heterogygous mice

domed cranium ( J:143508 )

• in some heterogygous mice

narrow head ( J:143508 )

• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head

nervous system

hydrocephaly ( J:143508 )

• in some heterogygous mice

exencephaly ( J:143508 )

• in some heterozygous embryos

growth/size/body

narrow head ( J:143508 )

• some heterozygous embryos at E11.5 and E12.5 shows bitemporal narrowing of head

decreased body size ( J:143508 )

• some heterozygous mice are significantly smaller than their wild-type littermates

postnatal growth retardation ( J:143508 )

• hetrozygotes grew significantly slower than control

pigmentation

belly spot ( J:143508 )

• white patches of variable size on the belly at low frequency

skeleton

abnormal frontonasal suture morphology ( J:143508 )

• the frontonasal suture was lacking the degree of interdigitation observed in the control

small cranium ( J:143508 )

• in some heterogygous mice

absent frontal bone ( J:143508 )

• in some heterogygous mice

absent interparietal bone ( J:143508 )

• in some heterogygous mice

absent supraoccipital bone ( J:143508 )

• in some heterogygous mice

absent parietal bone ( J:143508 )

• in some heterogygous mice

domed cranium ( J:143508 )

• in some heterogygous mice

kyphosis ( J:143508 )

• in some heterogygous mice

integument

belly spot ( J:143508 )

• white patches of variable size on the belly at low frequency

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:143508