Phenotypes Associated with This Genotype

Genotype
MGI:5911896

• Allelic Composition: Src^inl/Src^inl
• Genetic Background: involves: 129

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

mortality/aging

mortality/aging ( J:229610 )

N • viable for at least 1 year when fed a special mashed food diet

craniofacial

short basicranium ( J:229610 )

• shortened both anteriorly and posteriorly

abnormal tooth morphology ( J:229610 )

absent incisors ( J:229610 )

decreased molar number ( J:229610 )

• variable number of molars

• typically missing one or two of the molars either in the upper or lower jaw

abnormal tooth eruption ( J:229610 )

• impaired

shortened head ( J:229610 )

• significant reduction in length of almost all measures of the skull

behavior/neurological

abnormal learning/memory/conditioning ( J:229610 )

impaired cued conditioning behavior ( J:229610 )

• show shorter freezing time in a cued fear test compared to wild-type controls

• however, freezing time is similar in a context test and shock pain thresholds are similar to controls

abnormal motor learning ( J:229610 )

• spend less time walking on a rotating rod on days 3 and 4 but not on days 1 and 2, suggesting a defect in learning

abnormal spatial reference memory ( J:229610 )

• do not show a preference for the target location in probe trials in a Morris water maze

• however, escape performance is similar to controls in the visible and the hidden platform tasks

increased thigmotaxis ( J:229610 )

• spend less time in the center of an open field

• however, no differences in time spent in the open arm are detected in an elevated plus maze

abnormal response to novel object ( J:229610 )

• impaired ability to selectively react to a spatial and novelty change in the environment showing no preference for a displaced or novel object

abnormal motor capabilities/coordination/movement ( J:229610 )

increased startle reflex ( J:229610 )

• at 115 dB, but not at 70-105 dB

impaired coordination ( J:229610 )

• take longer to cross a balance beam and have an increased number of foot slips

decreased grip strength ( J:229610 )

• for both forelimb alone and the forelimb and hindlimb combined

increased locomotor activity ( J:229610 )

• show increased distance traveled in an open field assay

abnormal social investigation ( J:229610 )

• when given a choice between a social vs nonsocial object, homozygotes spend more time with the social object (mouse) compared to wild-type controls

• in a direct social investigation assay homozygotes spend more time in active social approaches compared to wild-type controls

• in a social dominance assay, homozygotes show dominance over wild-type mice in approximately 70% of matches

abnormal response to social novelty ( J:229610 )

• spend more time with familiar vs non-familiar mouse unlike wild-type controls

abnormal social recognition ( J:229610 )

• unable to distinguish between a familiar and non-familiar mouse

abnormal vocalization ( J:229610 )

• in a female-female social reunion assay, homozygous females emit more ultrasonic vocalizations in both the first and second minute compared to wild-type controls

growth/size/body

abnormal tooth morphology ( J:229610 )

absent incisors ( J:229610 )

decreased molar number ( J:229610 )

• variable number of molars

• typically missing one or two of the molars either in the upper or lower jaw

abnormal tooth eruption ( J:229610 )

• impaired

shortened head ( J:229610 )

• significant reduction in length of almost all measures of the skull

decreased body size ( J:229610 )

• at P12

decreased body weight ( J:229610 )

skeleton

short basicranium ( J:229610 )

• shortened both anteriorly and posteriorly

abnormal tooth morphology ( J:229610 )

absent incisors ( J:229610 )

decreased molar number ( J:229610 )

• variable number of molars

• typically missing one or two of the molars either in the upper or lower jaw

abnormal tooth eruption ( J:229610 )

• impaired

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:229610